SNP Links for Protein (Select 1057503160) - SNP

Select item 14809736271.

rs1480973627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:37943353 (GRCh38)
15:38235554 (GRCh37)
Canonical SPDI:: NC_000015.10:37943352:G:A
Gene:: TMCO5A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.37943353G>A, NC_000015.9:g.38235554G>A, NG_052635.1:g.13747G>A, NM_152453.3:c.582G>A, NM_152453.4:c.582G>A, NM_152453.2:c.582G>A, NM_001330255.1:c.582G>A, NM_001330255.2:c.582G>A, NM_001370737.1:c.582G>A, NR_163585.1:n.739G>A, NR_163584.1:n.771G>A, NM_001370735.1:c.582G>A, NM_001370736.1:c.624G>A, XM_011521262.3:c.582G>A, XM_011521262.2:c.582G>A, XM_011521262.1:c.582G>A, XM_047432176.1:c.582G>A, XM_047432177.1:c.582G>A

Select item 14797297912.

rs1479729791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:37947660 (GRCh38)
15:38239861 (GRCh37)
Canonical SPDI:: NC_000015.10:37947659:C:T
Gene:: TMCO5A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.37947660C>T, NC_000015.9:g.38239861C>T, NG_052635.1:g.18054C>T, NM_152453.3:c.632C>T, NM_152453.4:c.632C>T, NM_152453.2:c.632C>T, NM_001330255.1:c.632C>T, NM_001330255.2:c.632C>T, NM_001370737.1:c.632C>T, NR_163585.1:n.789C>T, NR_163584.1:n.821C>T, NM_001370735.1:c.632C>T, NM_001370736.1:c.674C>T, XM_011521262.3:c.632C>T, XM_011521262.2:c.632C>T, XM_011521262.1:c.632C>T, XM_047432176.1:c.632C>T, XM_047432177.1:c.632C>T, NP_689666.2:p.Thr211Ile, NP_001317184.1:p.Thr211Ile, NP_001357666.1:p.Thr211Ile, NP_001357664.1:p.Thr211Ile, NP_001357665.1:p.Thr225Ile, XP_011519564.1:p.Thr211Ile, XP_047288132.1:p.Thr211Ile, XP_047288133.1:p.Thr211Ile

Select item 14743947893.

rs1474394789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:37943355 (GRCh38)
15:38235556 (GRCh37)
Canonical SPDI:: NC_000015.10:37943354:G:T
Gene:: TMCO5A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.37943355G>T, NC_000015.9:g.38235556G>T, NG_052635.1:g.13749G>T, NM_152453.3:c.584G>T, NM_152453.4:c.584G>T, NM_152453.2:c.584G>T, NM_001330255.1:c.584G>T, NM_001330255.2:c.584G>T, NM_001370737.1:c.584G>T, NR_163585.1:n.741G>T, NR_163584.1:n.773G>T, NM_001370735.1:c.584G>T, NM_001370736.1:c.626G>T, XM_011521262.3:c.584G>T, XM_011521262.2:c.584G>T, XM_011521262.1:c.584G>T, XM_047432176.1:c.584G>T, XM_047432177.1:c.584G>T, NP_689666.2:p.Ser195Ile, NP_001317184.1:p.Ser195Ile, NP_001357666.1:p.Ser195Ile, NP_001357664.1:p.Ser195Ile, NP_001357665.1:p.Ser209Ile, XP_011519564.1:p.Ser195Ile, XP_047288132.1:p.Ser195Ile, XP_047288133.1:p.Ser195Ile

Select item 14696403884.

rs1469640388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:37936964 (GRCh38)
15:38229165 (GRCh37)
Canonical SPDI:: NC_000015.10:37936963:C:A,NC_000015.10:37936963:C:G
Gene:: TMCO5A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000015.10:g.37936964C>A, NC_000015.10:g.37936964C>G, NC_000015.9:g.38229165C>A, NC_000015.9:g.38229165C>G, NG_052635.1:g.7358C>A, NG_052635.1:g.7358C>G, NM_152453.3:c.258C>A, NM_152453.3:c.258C>G, NM_152453.4:c.258C>A, NM_152453.4:c.258C>G, NM_152453.2:c.258C>A, NM_152453.2:c.258C>G, NM_001330255.1:c.258C>A, NM_001330255.1:c.258C>G, NM_001330255.2:c.258C>A, NM_001330255.2:c.258C>G, NM_001370737.1:c.258C>A, NM_001370737.1:c.258C>G, NR_163585.1:n.415C>A, NR_163585.1:n.415C>G, NR_163584.1:n.415C>A, NR_163584.1:n.415C>G, NM_001370735.1:c.258C>A, NM_001370735.1:c.258C>G, NM_001370736.1:c.300C>A, NM_001370736.1:c.300C>G, XM_011521262.3:c.258C>A, XM_011521262.3:c.258C>G, XM_011521262.2:c.258C>A, XM_011521262.2:c.258C>G, XM_011521262.1:c.258C>A, XM_011521262.1:c.258C>G, XM_047432176.1:c.258C>A, XM_047432176.1:c.258C>G, XM_047432177.1:c.258C>A, XM_047432177.1:c.258C>G

Select item 14682070535.

rs1468207053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:37943393 (GRCh38)
15:38235594 (GRCh37)
Canonical SPDI:: NC_000015.10:37943392:A:T
Gene:: TMCO5A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.37943393A>T, NC_000015.9:g.38235594A>T, NG_052635.1:g.13787A>T, NM_152453.3:c.622A>T, NM_152453.4:c.622A>T, NM_152453.2:c.622A>T, NM_001330255.1:c.622A>T, NM_001330255.2:c.622A>T, NM_001370737.1:c.622A>T, NR_163585.1:n.779A>T, NR_163584.1:n.811A>T, NM_001370735.1:c.622A>T, NM_001370736.1:c.664A>T, XM_011521262.3:c.622A>T, XM_011521262.2:c.622A>T, XM_011521262.1:c.622A>T, XM_047432176.1:c.622A>T, XM_047432177.1:c.622A>T, NP_689666.2:p.Asn208Tyr, NP_001317184.1:p.Asn208Tyr, NP_001357666.1:p.Asn208Tyr, NP_001357664.1:p.Asn208Tyr, NP_001357665.1:p.Asn222Tyr, XP_011519564.1:p.Asn208Tyr, XP_047288132.1:p.Asn208Tyr, XP_047288133.1:p.Asn208Tyr

Select item 14661543366.

rs1466154336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:37936949 (GRCh38)
15:38229150 (GRCh37)
Canonical SPDI:: NC_000015.10:37936948:G:A
Gene:: TMCO5A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.37936949G>A, NC_000015.9:g.38229150G>A, NG_052635.1:g.7343G>A, NM_152453.3:c.243G>A, NM_152453.4:c.243G>A, NM_152453.2:c.243G>A, NM_001330255.1:c.243G>A, NM_001330255.2:c.243G>A, NM_001370737.1:c.243G>A, NR_163585.1:n.400G>A, NR_163584.1:n.400G>A, NM_001370735.1:c.243G>A, NM_001370736.1:c.285G>A, XM_011521262.3:c.243G>A, XM_011521262.2:c.243G>A, XM_011521262.1:c.243G>A, XM_047432176.1:c.243G>A, XM_047432177.1:c.243G>A

Select item 14637823567.

rs1463782356 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 15:37936350 (GRCh38)
15:38228551 (GRCh37)
Canonical SPDI:: NC_000015.10:37936349:AAAAA:AAAA
Gene:: TMCO5A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
HGVS:: NC_000015.10:g.37936354del, NC_000015.9:g.38228555del, NG_052635.1:g.6748del, NM_152453.3:c.31del, NM_152453.4:c.31del, NM_152453.2:c.31del, NM_001330255.1:c.31del, NM_001330255.2:c.31del, NM_001370737.1:c.31del, NR_163585.1:n.188del, NR_163584.1:n.188del, NM_001370735.1:c.31del, NM_001370736.1:c.73del, XM_011521262.3:c.31del, XM_011521262.2:c.31del, XM_011521262.1:c.31del, XM_047432176.1:c.31del, XM_047432177.1:c.31del, NP_689666.2:p.Arg11fs, NP_001317184.1:p.Arg11fs, NP_001357666.1:p.Arg11fs, NP_001357664.1:p.Arg11fs, NP_001357665.1:p.Arg25fs, XP_011519564.1:p.Arg11fs, XP_047288132.1:p.Arg11fs, XP_047288133.1:p.Arg11fs

Select item 14618826288.

rs1461882628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:37941684 (GRCh38)
15:38233885 (GRCh37)
Canonical SPDI:: NC_000015.10:37941683:A:G
Gene:: TMCO5A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.37941684A>G, NC_000015.9:g.38233885A>G, NG_052635.1:g.12078A>G, NM_152453.3:c.458A>G, NM_152453.4:c.458A>G, NM_152453.2:c.458A>G, NM_001330255.1:c.458A>G, NM_001330255.2:c.458A>G, NM_001370737.1:c.458A>G, NR_163585.1:n.615A>G, NR_163584.1:n.615A>G, NM_001370735.1:c.458A>G, NM_001370736.1:c.500A>G, XM_011521262.3:c.458A>G, XM_011521262.2:c.458A>G, XM_011521262.1:c.458A>G, XM_047432176.1:c.458A>G, XM_047432177.1:c.458A>G, NP_689666.2:p.Tyr153Cys, NP_001317184.1:p.Tyr153Cys, NP_001357666.1:p.Tyr153Cys, NP_001357664.1:p.Tyr153Cys, NP_001357665.1:p.Tyr167Cys, XP_011519564.1:p.Tyr153Cys, XP_047288132.1:p.Tyr153Cys, XP_047288133.1:p.Tyr153Cys

Select item 14596727649.

rs1459672764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:37941161 (GRCh38)
15:38233362 (GRCh37)
Canonical SPDI:: NC_000015.10:37941160:C:T
Gene:: TMCO5A (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000015.10:g.37941161C>T, NC_000015.9:g.38233362C>T, NG_052635.1:g.11555C>T, NM_152453.3:c.400C>T, NM_152453.4:c.400C>T, NM_152453.2:c.400C>T, NM_001330255.1:c.400C>T, NM_001330255.2:c.400C>T, NM_001370737.1:c.400C>T, NR_163585.1:n.557C>T, NR_163584.1:n.557C>T, NM_001370735.1:c.400C>T, NM_001370736.1:c.442C>T, XM_011521262.3:c.400C>T, XM_011521262.2:c.400C>T, XM_011521262.1:c.400C>T, XM_047432176.1:c.400C>T, XM_047432177.1:c.400C>T, NP_689666.2:p.Gln134Ter, NP_001317184.1:p.Gln134Ter, NP_001357666.1:p.Gln134Ter, NP_001357664.1:p.Gln134Ter, NP_001357665.1:p.Gln148Ter, XP_011519564.1:p.Gln134Ter, XP_047288132.1:p.Gln134Ter, XP_047288133.1:p.Gln134Ter

Select item 145834986310.

rs1458349863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:37936367 (GRCh38)
15:38228568 (GRCh37)
Canonical SPDI:: NC_000015.10:37936366:G:T
Gene:: TMCO5A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.37936367G>T, NC_000015.9:g.38228568G>T, NG_052635.1:g.6761G>T, NM_152453.3:c.44G>T, NM_152453.4:c.44G>T, NM_152453.2:c.44G>T, NM_001330255.1:c.44G>T, NM_001330255.2:c.44G>T, NM_001370737.1:c.44G>T, NR_163585.1:n.201G>T, NR_163584.1:n.201G>T, NM_001370735.1:c.44G>T, NM_001370736.1:c.86G>T, XM_011521262.3:c.44G>T, XM_011521262.2:c.44G>T, XM_011521262.1:c.44G>T, XM_047432176.1:c.44G>T, XM_047432177.1:c.44G>T, NP_689666.2:p.Ser15Ile, NP_001317184.1:p.Ser15Ile, NP_001357666.1:p.Ser15Ile, NP_001357664.1:p.Ser15Ile, NP_001357665.1:p.Ser29Ile, XP_011519564.1:p.Ser15Ile, XP_047288132.1:p.Ser15Ile, XP_047288133.1:p.Ser15Ile

Select item 145000191811.

rs1450001918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:37936888 (GRCh38)
15:38229089 (GRCh37)
Canonical SPDI:: NC_000015.10:37936887:A:T
Gene:: TMCO5A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.37936888A>T, NC_000015.9:g.38229089A>T, NG_052635.1:g.7282A>T, NM_152453.3:c.182A>T, NM_152453.4:c.182A>T, NM_152453.2:c.182A>T, NM_001330255.1:c.182A>T, NM_001330255.2:c.182A>T, NM_001370737.1:c.182A>T, NR_163585.1:n.339A>T, NR_163584.1:n.339A>T, NM_001370735.1:c.182A>T, NM_001370736.1:c.224A>T, XM_011521262.3:c.182A>T, XM_011521262.2:c.182A>T, XM_011521262.1:c.182A>T, XM_047432176.1:c.182A>T, XM_047432177.1:c.182A>T, NP_689666.2:p.Asp61Val, NP_001317184.1:p.Asp61Val, NP_001357666.1:p.Asp61Val, NP_001357664.1:p.Asp61Val, NP_001357665.1:p.Asp75Val, XP_011519564.1:p.Asp61Val, XP_047288132.1:p.Asp61Val, XP_047288133.1:p.Asp61Val

Select item 144959126612.

rs1449591266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:37936969 (GRCh38)
15:38229170 (GRCh37)
Canonical SPDI:: NC_000015.10:37936968:T:C,NC_000015.10:37936968:T:G
Gene:: TMCO5A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.37936969T>C, NC_000015.10:g.37936969T>G, NC_000015.9:g.38229170T>C, NC_000015.9:g.38229170T>G, NG_052635.1:g.7363T>C, NG_052635.1:g.7363T>G, NM_152453.3:c.263T>C, NM_152453.3:c.263T>G, NM_152453.4:c.263T>C, NM_152453.4:c.263T>G, NM_152453.2:c.263T>C, NM_152453.2:c.263T>G, NM_001330255.1:c.263T>C, NM_001330255.1:c.263T>G, NM_001330255.2:c.263T>C, NM_001330255.2:c.263T>G, NM_001370737.1:c.263T>C, NM_001370737.1:c.263T>G, NR_163585.1:n.420T>C, NR_163585.1:n.420T>G, NR_163584.1:n.420T>C, NR_163584.1:n.420T>G, NM_001370735.1:c.263T>C, NM_001370735.1:c.263T>G, NM_001370736.1:c.305T>C, NM_001370736.1:c.305T>G, XM_011521262.3:c.263T>C, XM_011521262.3:c.263T>G, XM_011521262.2:c.263T>C, XM_011521262.2:c.263T>G, XM_011521262.1:c.263T>C, XM_011521262.1:c.263T>G, XM_047432176.1:c.263T>C, XM_047432176.1:c.263T>G, XM_047432177.1:c.263T>C, XM_047432177.1:c.263T>G, NP_689666.2:p.Leu88Pro, NP_689666.2:p.Leu88Arg, NP_001317184.1:p.Leu88Pro, NP_001317184.1:p.Leu88Arg, NP_001357666.1:p.Leu88Pro, NP_001357666.1:p.Leu88Arg, NP_001357664.1:p.Leu88Pro, NP_001357664.1:p.Leu88Arg, NP_001357665.1:p.Leu102Pro, NP_001357665.1:p.Leu102Arg, XP_011519564.1:p.Leu88Pro, XP_011519564.1:p.Leu88Arg, XP_047288132.1:p.Leu88Pro, XP_047288132.1:p.Leu88Arg, XP_047288133.1:p.Leu88Pro, XP_047288133.1:p.Leu88Arg

Select item 144734575613.

rs1447345756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:37937362 (GRCh38)
15:38229563 (GRCh37)
Canonical SPDI:: NC_000015.10:37937361:C:T
Gene:: TMCO5A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.37937362C>T, NC_000015.9:g.38229563C>T, NG_052635.1:g.7756C>T, NM_152453.3:c.281C>T, NM_152453.4:c.281C>T, NM_152453.2:c.281C>T, NM_001330255.1:c.281C>T, NM_001330255.2:c.281C>T, NM_001370737.1:c.281C>T, NR_163585.1:n.438C>T, NR_163584.1:n.438C>T, NM_001370735.1:c.281C>T, NM_001370736.1:c.323C>T, XM_011521262.3:c.281C>T, XM_011521262.2:c.281C>T, XM_011521262.1:c.281C>T, XM_047432176.1:c.281C>T, XM_047432177.1:c.281C>T, NP_689666.2:p.Thr94Met, NP_001317184.1:p.Thr94Met, NP_001357666.1:p.Thr94Met, NP_001357664.1:p.Thr94Met, NP_001357665.1:p.Thr108Met, XP_011519564.1:p.Thr94Met, XP_047288132.1:p.Thr94Met, XP_047288133.1:p.Thr94Met

Select item 144138176914.

rs1441381769 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:37937390 (GRCh38)
15:38229591 (GRCh37)
Canonical SPDI:: NC_000015.10:37937389:A:G
Gene:: TMCO5A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.37937390A>G, NC_000015.9:g.38229591A>G, NG_052635.1:g.7784A>G, NM_152453.3:c.309A>G, NM_152453.4:c.309A>G, NM_152453.2:c.309A>G, NM_001330255.1:c.309A>G, NM_001330255.2:c.309A>G, NM_001370737.1:c.309A>G, NR_163585.1:n.466A>G, NR_163584.1:n.466A>G, NM_001370735.1:c.309A>G, NM_001370736.1:c.351A>G, XM_011521262.3:c.309A>G, XM_011521262.2:c.309A>G, XM_011521262.1:c.309A>G, XM_047432176.1:c.309A>G, XM_047432177.1:c.309A>G

Select item 144120008215.

rs1441200082 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:37938183 (GRCh38)
15:38230384 (GRCh37)
Canonical SPDI:: NC_000015.10:37938182:C:T
Gene:: TMCO5A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.37938183C>T, NC_000015.9:g.38230384C>T, NG_052635.1:g.8577C>T, NM_152453.3:c.341C>T, NM_152453.4:c.341C>T, NM_152453.2:c.341C>T, NM_001330255.1:c.341C>T, NM_001330255.2:c.341C>T, NM_001370737.1:c.341C>T, NR_163585.1:n.498C>T, NR_163584.1:n.498C>T, NM_001370735.1:c.341C>T, NM_001370736.1:c.383C>T, XM_011521262.3:c.341C>T, XM_011521262.2:c.341C>T, XM_011521262.1:c.341C>T, XM_047432176.1:c.341C>T, XM_047432177.1:c.341C>T, NP_689666.2:p.Thr114Ile, NP_001317184.1:p.Thr114Ile, NP_001357666.1:p.Thr114Ile, NP_001357664.1:p.Thr114Ile, NP_001357665.1:p.Thr128Ile, XP_011519564.1:p.Thr114Ile, XP_047288132.1:p.Thr114Ile, XP_047288133.1:p.Thr114Ile

Select item 144113917116.

rs1441139171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:37943369 (GRCh38)
15:38235570 (GRCh37)
Canonical SPDI:: NC_000015.10:37943368:G:A
Gene:: TMCO5A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000015.10:g.37943369G>A, NC_000015.9:g.38235570G>A, NG_052635.1:g.13763G>A, NM_152453.3:c.598G>A, NM_152453.4:c.598G>A, NM_152453.2:c.598G>A, NM_001330255.1:c.598G>A, NM_001330255.2:c.598G>A, NM_001370737.1:c.598G>A, NR_163585.1:n.755G>A, NR_163584.1:n.787G>A, NM_001370735.1:c.598G>A, NM_001370736.1:c.640G>A, XM_011521262.3:c.598G>A, XM_011521262.2:c.598G>A, XM_011521262.1:c.598G>A, XM_047432176.1:c.598G>A, XM_047432177.1:c.598G>A, NP_689666.2:p.Glu200Lys, NP_001317184.1:p.Glu200Lys, NP_001357666.1:p.Glu200Lys, NP_001357664.1:p.Glu200Lys, NP_001357665.1:p.Glu214Lys, XP_011519564.1:p.Glu200Lys, XP_047288132.1:p.Glu200Lys, XP_047288133.1:p.Glu200Lys

Select item 143487679817.

rs1434876798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:37936933 (GRCh38)
15:38229134 (GRCh37)
Canonical SPDI:: NC_000015.10:37936932:G:C
Gene:: TMCO5A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.37936933G>C, NC_000015.9:g.38229134G>C, NG_052635.1:g.7327G>C, NM_152453.3:c.227G>C, NM_152453.4:c.227G>C, NM_152453.2:c.227G>C, NM_001330255.1:c.227G>C, NM_001330255.2:c.227G>C, NM_001370737.1:c.227G>C, NR_163585.1:n.384G>C, NR_163584.1:n.384G>C, NM_001370735.1:c.227G>C, NM_001370736.1:c.269G>C, XM_011521262.3:c.227G>C, XM_011521262.2:c.227G>C, XM_011521262.1:c.227G>C, XM_047432176.1:c.227G>C, XM_047432177.1:c.227G>C, NP_689666.2:p.Arg76Thr, NP_001317184.1:p.Arg76Thr, NP_001357666.1:p.Arg76Thr, NP_001357664.1:p.Arg76Thr, NP_001357665.1:p.Arg90Thr, XP_011519564.1:p.Arg76Thr, XP_047288132.1:p.Arg76Thr, XP_047288133.1:p.Arg76Thr

Select item 143292705418.

rs1432927054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:37938189 (GRCh38)
15:38230390 (GRCh37)
Canonical SPDI:: NC_000015.10:37938188:G:A
Gene:: TMCO5A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.37938189G>A, NC_000015.9:g.38230390G>A, NG_052635.1:g.8583G>A, NM_152453.3:c.347G>A, NM_152453.4:c.347G>A, NM_152453.2:c.347G>A, NM_001330255.1:c.347G>A, NM_001330255.2:c.347G>A, NM_001370737.1:c.347G>A, NR_163585.1:n.504G>A, NR_163584.1:n.504G>A, NM_001370735.1:c.347G>A, NM_001370736.1:c.389G>A, XM_011521262.3:c.347G>A, XM_011521262.2:c.347G>A, XM_011521262.1:c.347G>A, XM_047432176.1:c.347G>A, XM_047432177.1:c.347G>A, NP_689666.2:p.Cys116Tyr, NP_001317184.1:p.Cys116Tyr, NP_001357666.1:p.Cys116Tyr, NP_001357664.1:p.Cys116Tyr, NP_001357665.1:p.Cys130Tyr, XP_011519564.1:p.Cys116Tyr, XP_047288132.1:p.Cys116Tyr, XP_047288133.1:p.Cys116Tyr

Select item 142959694419.

rs1429596944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:37942206 (GRCh38)
15:38234407 (GRCh37)
Canonical SPDI:: NC_000015.10:37942205:T:C
Gene:: TMCO5A (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.37942206T>C, NC_000015.9:g.38234407T>C, NG_052635.1:g.12600T>C, NM_152453.3:c.520T>C, NM_152453.4:c.520T>C, NM_152453.2:c.520T>C, NM_001330255.1:c.520T>C, NM_001330255.2:c.520T>C, NM_001370737.1:c.520T>C, NR_163585.1:n.677T>C, NR_163584.1:n.677T>C, NM_001370735.1:c.520T>C, NM_001370736.1:c.562T>C, XM_011521262.3:c.520T>C, XM_011521262.2:c.520T>C, XM_011521262.1:c.520T>C, XM_047432176.1:c.520T>C, XM_047432177.1:c.520T>C

Select item 142763284820.

rs1427632848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:37942234 (GRCh38)
15:38234435 (GRCh37)
Canonical SPDI:: NC_000015.10:37942233:C:T
Gene:: TMCO5A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000015.10:g.37942234C>T, NC_000015.9:g.38234435C>T, NG_052635.1:g.12628C>T, NM_152453.3:c.548C>T, NM_152453.4:c.548C>T, NM_152453.2:c.548C>T, NM_001330255.1:c.548C>T, NM_001330255.2:c.548C>T, NM_001370737.1:c.548C>T, NR_163585.1:n.705C>T, NR_163584.1:n.705C>T, NM_001370735.1:c.548C>T, NM_001370736.1:c.590C>T, XM_011521262.3:c.548C>T, XM_011521262.2:c.548C>T, XM_011521262.1:c.548C>T, XM_047432176.1:c.548C>T, XM_047432177.1:c.548C>T, NP_689666.2:p.Ala183Val, NP_001317184.1:p.Ala183Val, NP_001357666.1:p.Ala183Val, NP_001357664.1:p.Ala183Val, NP_001357665.1:p.Ala197Val, XP_011519564.1:p.Ala183Val, XP_047288132.1:p.Ala183Val, XP_047288133.1:p.Ala183Val

dbSNP

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dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 240

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