SNP Links for Protein (Select 1012282641) - SNP

Links from Protein

Items: 1 to 20 of 556

<< First< Prev

Page of 28

Next >Last >>

Select item 14897605551.

rs1489760555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:137585265 (GRCh38)
7:137270011 (GRCh37)
Canonical SPDI:: NC_000007.14:137585264:G:C
Gene:: DGKI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000085/3 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.137585265G>C, NC_000007.13:g.137270011G>C, NM_004717.3:c.1507C>G, NM_004717.2:c.1507C>G, NM_001321708.2:c.1507C>G, NM_001321708.1:c.1507C>G, NM_001321710.2:c.607C>G, NM_001321710.1:c.607C>G, NM_001321709.2:c.607C>G, NM_001321709.1:c.607C>G, XM_047421020.1:c.1507C>G, NM_001388092.1:c.1507C>G, XM_047421021.1:c.1507C>G, XM_047421022.1:c.1507C>G, XM_047421023.1:c.1507C>G, NP_004708.1:p.His503Asp, NP_001308637.1:p.His503Asp, NP_001308639.1:p.His203Asp, NP_001308638.1:p.His203Asp, XP_047276976.1:p.His503Asp, NP_001375021.1:p.His503Asp, XP_047276977.1:p.His503Asp, XP_047276978.1:p.His503Asp, XP_047276979.1:p.His503Asp

Select item 14863341302.

rs1486334130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:137585245 (GRCh38)
7:137269991 (GRCh37)
Canonical SPDI:: NC_000007.14:137585244:G:T
Gene:: DGKI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137585245G>T, NC_000007.13:g.137269991G>T, NM_004717.3:c.1527C>A, NM_004717.2:c.1527C>A, NM_001321708.2:c.1527C>A, NM_001321708.1:c.1527C>A, NM_001321710.2:c.627C>A, NM_001321710.1:c.627C>A, NM_001321709.2:c.627C>A, NM_001321709.1:c.627C>A, XM_047421020.1:c.1527C>A, NM_001388092.1:c.1527C>A, XM_047421021.1:c.1527C>A, XM_047421022.1:c.1527C>A, XM_047421023.1:c.1527C>A, NP_004708.1:p.Asp509Glu, NP_001308637.1:p.Asp509Glu, NP_001308639.1:p.Asp209Glu, NP_001308638.1:p.Asp209Glu, XP_047276976.1:p.Asp509Glu, NP_001375021.1:p.Asp509Glu, XP_047276977.1:p.Asp509Glu, XP_047276978.1:p.Asp509Glu, XP_047276979.1:p.Asp509Glu

Select item 14852893913.

rs1485289391 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:137609608 (GRCh38)
7:137294354 (GRCh37)
Canonical SPDI:: NC_000007.14:137609607:T:C
Gene:: DGKI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.137609608T>C, NC_000007.13:g.137294354T>C, NM_004717.3:c.995A>G, NM_004717.2:c.995A>G, NM_001321708.2:c.995A>G, NM_001321708.1:c.995A>G, NM_001321710.2:c.95A>G, NM_001321710.1:c.95A>G, NM_001321709.2:c.95A>G, NM_001321709.1:c.95A>G, XM_047421020.1:c.995A>G, NM_001388092.1:c.995A>G, XM_047421021.1:c.995A>G, XM_047421022.1:c.995A>G, XM_047421023.1:c.995A>G, NP_004708.1:p.Asn332Ser, NP_001308637.1:p.Asn332Ser, NP_001308639.1:p.Asn32Ser, NP_001308638.1:p.Asn32Ser, XP_047276976.1:p.Asn332Ser, NP_001375021.1:p.Asn332Ser, XP_047276977.1:p.Asn332Ser, XP_047276978.1:p.Asn332Ser, XP_047276979.1:p.Asn332Ser

Select item 14839198634.

rs1483919863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:137552535 (GRCh38)
7:137237281 (GRCh37)
Canonical SPDI:: NC_000007.14:137552534:G:C
Gene:: DGKI (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137552535G>C, NC_000007.13:g.137237281G>C, NM_004717.3:c.1981C>G, NM_004717.2:c.1981C>G, NM_001321708.2:c.1981C>G, NM_001321708.1:c.1981C>G, NM_001321710.2:c.1081C>G, NM_001321710.1:c.1081C>G, NM_001321709.2:c.1081C>G, NM_001321709.1:c.1081C>G, XM_047421020.1:c.1981C>G, NM_001388092.1:c.1981C>G, XM_047421021.1:c.1981C>G, XM_047421022.1:c.1981C>G, NP_004708.1:p.Leu661Val, NP_001308637.1:p.Leu661Val, NP_001308639.1:p.Leu361Val, NP_001308638.1:p.Leu361Val, XP_047276976.1:p.Leu661Val, NP_001375021.1:p.Leu661Val, XP_047276977.1:p.Leu661Val, XP_047276978.1:p.Leu661Val

Select item 14837656745.

rs1483765674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:137391303 (GRCh38)
7:137076049 (GRCh37)
Canonical SPDI:: NC_000007.14:137391302:C:A
Gene:: DGKI (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137391303C>A, NC_000007.13:g.137076049C>A, NM_004717.3:c.3115G>T, NM_004717.2:c.3115G>T, NM_001321708.2:c.3091G>T, NM_001321708.1:c.3091G>T, NM_001321710.2:c.2122G>T, NM_001321710.1:c.2122G>T, NM_001321709.2:c.2191G>T, NM_001321709.1:c.2191G>T, XM_047421020.1:c.3208G>T, NM_001388092.1:c.3154G>T, XM_047421021.1:c.3022G>T, XM_047421022.1:c.2968G>T, NP_004708.1:p.Gly1039Trp, NP_001308637.1:p.Gly1031Trp, NP_001308639.1:p.Gly708Trp, NP_001308638.1:p.Gly731Trp, XP_047276976.1:p.Gly1070Trp, NP_001375021.1:p.Gly1052Trp, XP_047276977.1:p.Gly1008Trp, XP_047276978.1:p.Gly990Trp

Select item 14794106056.

rs1479410605 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:137619842 (GRCh38)
7:137304588 (GRCh37)
Canonical SPDI:: NC_000007.14:137619841:A:T
Gene:: DGKI (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000007.14:g.137619842A>T, NC_000007.13:g.137304588A>T, NM_004717.3:c.975T>A, NM_004717.2:c.975T>A, NM_001321708.2:c.975T>A, NM_001321708.1:c.975T>A, NM_001321710.2:c.75T>A, NM_001321710.1:c.75T>A, NM_001321709.2:c.75T>A, NM_001321709.1:c.75T>A, XM_047421020.1:c.975T>A, NM_001388092.1:c.975T>A, XM_047421021.1:c.975T>A, XM_047421022.1:c.975T>A, XM_047421023.1:c.975T>A

Select item 14784440117.

rs1478444011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:137466018 (GRCh38)
7:137150764 (GRCh37)
Canonical SPDI:: NC_000007.14:137466017:C:T
Gene:: DGKI (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137466018C>T, NC_000007.13:g.137150764C>T, NM_004717.3:c.2526G>A, NM_004717.2:c.2526G>A, NM_001321708.2:c.2502G>A, NM_001321708.1:c.2502G>A, NM_001321710.2:c.1656G>A, NM_001321710.1:c.1656G>A, NM_001321709.2:c.1602G>A, NM_001321709.1:c.1602G>A, XM_047421020.1:c.2619G>A, NM_001388092.1:c.2565G>A, XM_047421021.1:c.2556G>A, XM_047421022.1:c.2502G>A

Select item 14770202668.

rs1477020266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:137585345 (GRCh38)
7:137270091 (GRCh37)
Canonical SPDI:: NC_000007.14:137585344:C:T
Gene:: DGKI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137585345C>T, NC_000007.13:g.137270091C>T, NM_004717.3:c.1427G>A, NM_004717.2:c.1427G>A, NM_001321708.2:c.1427G>A, NM_001321708.1:c.1427G>A, NM_001321710.2:c.527G>A, NM_001321710.1:c.527G>A, NM_001321709.2:c.527G>A, NM_001321709.1:c.527G>A, XM_047421020.1:c.1427G>A, NM_001388092.1:c.1427G>A, XM_047421021.1:c.1427G>A, XM_047421022.1:c.1427G>A, XM_047421023.1:c.1427G>A, NP_004708.1:p.Gly476Asp, NP_001308637.1:p.Gly476Asp, NP_001308639.1:p.Gly176Asp, NP_001308638.1:p.Gly176Asp, XP_047276976.1:p.Gly476Asp, NP_001375021.1:p.Gly476Asp, XP_047276977.1:p.Gly476Asp, XP_047276978.1:p.Gly476Asp, XP_047276979.1:p.Gly476Asp

Select item 14769693229.

rs1476969322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:137609539 (GRCh38)
7:137294285 (GRCh37)
Canonical SPDI:: NC_000007.14:137609538:A:G
Gene:: DGKI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137609539A>G, NC_000007.13:g.137294285A>G, NM_004717.3:c.1064T>C, NM_004717.2:c.1064T>C, NM_001321708.2:c.1064T>C, NM_001321708.1:c.1064T>C, NM_001321710.2:c.164T>C, NM_001321710.1:c.164T>C, NM_001321709.2:c.164T>C, NM_001321709.1:c.164T>C, XM_047421020.1:c.1064T>C, NM_001388092.1:c.1064T>C, XM_047421021.1:c.1064T>C, XM_047421022.1:c.1064T>C, XM_047421023.1:c.1064T>C, NP_004708.1:p.Met355Thr, NP_001308637.1:p.Met355Thr, NP_001308639.1:p.Met55Thr, NP_001308638.1:p.Met55Thr, XP_047276976.1:p.Met355Thr, NP_001375021.1:p.Met355Thr, XP_047276977.1:p.Met355Thr, XP_047276978.1:p.Met355Thr, XP_047276979.1:p.Met355Thr

Select item 147515893310.

rs1475158933 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:137552549 (GRCh38)
7:137237295 (GRCh37)
Canonical SPDI:: NC_000007.14:137552548:CCCCC:CCCC
Gene:: DGKI (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137552553del, NC_000007.13:g.137237299del, NM_004717.3:c.1967del, NM_004717.2:c.1967del, NM_001321708.2:c.1967del, NM_001321708.1:c.1967del, NM_001321710.2:c.1067del, NM_001321710.1:c.1067del, NM_001321709.2:c.1067del, NM_001321709.1:c.1067del, XM_047421020.1:c.1967del, NM_001388092.1:c.1967del, XM_047421021.1:c.1967del, XM_047421022.1:c.1967del, NP_004708.1:p.Gly656fs, NP_001308637.1:p.Gly656fs, NP_001308639.1:p.Gly356fs, NP_001308638.1:p.Gly356fs, XP_047276976.1:p.Gly656fs, NP_001375021.1:p.Gly656fs, XP_047276977.1:p.Gly656fs, XP_047276978.1:p.Gly656fs

Select item 147207513311.

rs1472075133 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:137609544 (GRCh38)
7:137294290 (GRCh37)
Canonical SPDI:: NC_000007.14:137609543:T:G
Gene:: DGKI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137609544T>G, NC_000007.13:g.137294290T>G, NM_004717.3:c.1059A>C, NM_004717.2:c.1059A>C, NM_001321708.2:c.1059A>C, NM_001321708.1:c.1059A>C, NM_001321710.2:c.159A>C, NM_001321710.1:c.159A>C, NM_001321709.2:c.159A>C, NM_001321709.1:c.159A>C, XM_047421020.1:c.1059A>C, NM_001388092.1:c.1059A>C, XM_047421021.1:c.1059A>C, XM_047421022.1:c.1059A>C, XM_047421023.1:c.1059A>C, NP_004708.1:p.Arg353Ser, NP_001308637.1:p.Arg353Ser, NP_001308639.1:p.Arg53Ser, NP_001308638.1:p.Arg53Ser, XP_047276976.1:p.Arg353Ser, NP_001375021.1:p.Arg353Ser, XP_047276977.1:p.Arg353Ser, XP_047276978.1:p.Arg353Ser, XP_047276979.1:p.Arg353Ser

Select item 147113053312.

rs1471130533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:137466030 (GRCh38)
7:137150776 (GRCh37)
Canonical SPDI:: NC_000007.14:137466029:A:G
Gene:: DGKI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137466030A>G, NC_000007.13:g.137150776A>G, NM_004717.3:c.2514T>C, NM_004717.2:c.2514T>C, NM_001321708.2:c.2490T>C, NM_001321708.1:c.2490T>C, NM_001321710.2:c.1644T>C, NM_001321710.1:c.1644T>C, NM_001321709.2:c.1590T>C, NM_001321709.1:c.1590T>C, XM_047421020.1:c.2607T>C, NM_001388092.1:c.2553T>C, XM_047421021.1:c.2544T>C, XM_047421022.1:c.2490T>C

Select item 146129552913.

rs1461295529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:137552473 (GRCh38)
7:137237219 (GRCh37)
Canonical SPDI:: NC_000007.14:137552472:C:T
Gene:: DGKI (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.137552473C>T, NC_000007.13:g.137237219C>T, NM_004717.3:c.2043G>A, NM_004717.2:c.2043G>A, NM_001321708.2:c.2043G>A, NM_001321708.1:c.2043G>A, NM_001321710.2:c.1143G>A, NM_001321710.1:c.1143G>A, NM_001321709.2:c.1143G>A, NM_001321709.1:c.1143G>A, XM_047421020.1:c.2043G>A, NM_001388092.1:c.2043G>A, XM_047421021.1:c.2043G>A, XM_047421022.1:c.2043G>A

Select item 145801227014.

rs1458012270 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:137487658 (GRCh38)
7:137172404 (GRCh37)
Canonical SPDI:: NC_000007.14:137487657:T:A
Gene:: DGKI (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137487658T>A, NC_000007.13:g.137172404T>A, NM_004717.3:c.2334A>T, NM_004717.2:c.2334A>T, NM_001321708.2:c.2280A>T, NM_001321708.1:c.2280A>T, NM_001321710.2:c.1434A>T, NM_001321710.1:c.1434A>T, NM_001321709.2:c.1380A>T, NM_001321709.1:c.1380A>T, XM_047421020.1:c.2397A>T, NM_001388092.1:c.2343A>T, XM_047421021.1:c.2334A>T, XM_047421022.1:c.2280A>T

Select item 145784450815.

rs1457844508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:137465936 (GRCh38)
7:137150682 (GRCh37)
Canonical SPDI:: NC_000007.14:137465935:G:T
Gene:: DGKI (Varview)
Functional Consequence:: genic_downstream_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_000007.14:g.137465936G>T, NC_000007.13:g.137150682G>T, NM_004717.3:c.2608C>A, NM_004717.2:c.2608C>A, NM_001321708.2:c.2584C>A, NM_001321708.1:c.2584C>A, NM_001321710.2:c.1738C>A, NM_001321710.1:c.1738C>A, NM_001321709.2:c.1684C>A, NM_001321709.1:c.1684C>A, XM_047421020.1:c.2701C>A, NM_001388092.1:c.2647C>A, XM_047421021.1:c.2638C>A, XM_047421022.1:c.2584C>A, NP_004708.1:p.Pro870Thr, NP_001308637.1:p.Pro862Thr, NP_001308639.1:p.Pro580Thr, NP_001308638.1:p.Pro562Thr, XP_047276976.1:p.Pro901Thr, NP_001375021.1:p.Pro883Thr, XP_047276977.1:p.Pro880Thr, XP_047276978.1:p.Pro862Thr

Select item 145282458816.

rs1452824588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:137521878 (GRCh38)
7:137206624 (GRCh37)
Canonical SPDI:: NC_000007.14:137521877:G:A
Gene:: DGKI (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137521878G>A, NC_000007.13:g.137206624G>A, NM_004717.3:c.2236C>T, NM_004717.2:c.2236C>T, NM_001321708.2:c.2236C>T, NM_001321708.1:c.2236C>T, NM_001321710.2:c.1336C>T, NM_001321710.1:c.1336C>T, NM_001321709.2:c.1336C>T, NM_001321709.1:c.1336C>T, XM_047421020.1:c.2299C>T, NM_001388092.1:c.2299C>T, XM_047421021.1:c.2236C>T, XM_047421022.1:c.2236C>T, NP_004708.1:p.Leu746Phe, NP_001308637.1:p.Leu746Phe, NP_001308639.1:p.Leu446Phe, NP_001308638.1:p.Leu446Phe, XP_047276976.1:p.Leu767Phe, NP_001375021.1:p.Leu767Phe, XP_047276977.1:p.Leu746Phe, XP_047276978.1:p.Leu746Phe

Select item 145188202517.

rs1451882025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:137581857 (GRCh38)
7:137266603 (GRCh37)
Canonical SPDI:: NC_000007.14:137581856:T:C
Gene:: DGKI (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.137581857T>C, NC_000007.13:g.137266603T>C, NM_004717.3:c.1635A>G, NM_004717.2:c.1635A>G, NM_001321708.2:c.1635A>G, NM_001321708.1:c.1635A>G, NM_001321710.2:c.735A>G, NM_001321710.1:c.735A>G, NM_001321709.2:c.735A>G, NM_001321709.1:c.735A>G, XM_047421020.1:c.1635A>G, NM_001388092.1:c.1635A>G, XM_047421021.1:c.1635A>G, XM_047421022.1:c.1635A>G, XM_047421023.1:c.1635A>G

Select item 145120224118.

rs1451202241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:137395610 (GRCh38)
7:137080356 (GRCh37)
Canonical SPDI:: NC_000007.14:137395609:C:G
Gene:: DGKI (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.137395610C>G, NC_000007.13:g.137080356C>G, NM_004717.3:c.3069G>C, NM_004717.2:c.3069G>C, NM_001321708.2:c.3045G>C, NM_001321708.1:c.3045G>C, NM_001321710.2:c.2076G>C, NM_001321710.1:c.2076G>C, NM_001321709.2:c.2145G>C, NM_001321709.1:c.2145G>C, XM_047421020.1:c.3162G>C, NM_001388092.1:c.3108G>C, XM_047421021.1:c.2976G>C, XM_047421022.1:c.2922G>C, NP_004708.1:p.Lys1023Asn, NP_001308637.1:p.Lys1015Asn, NP_001308639.1:p.Lys692Asn, NP_001308638.1:p.Lys715Asn, XP_047276976.1:p.Lys1054Asn, NP_001375021.1:p.Lys1036Asn, XP_047276977.1:p.Lys992Asn, XP_047276978.1:p.Lys974Asn

Select item 145086792319.

rs1450867923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:137619840 (GRCh38)
7:137304586 (GRCh37)
Canonical SPDI:: NC_000007.14:137619839:T:C
Gene:: DGKI (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137619840T>C, NC_000007.13:g.137304586T>C, NM_004717.3:c.977A>G, NM_004717.2:c.977A>G, NM_001321708.2:c.977A>G, NM_001321708.1:c.977A>G, NM_001321710.2:c.77A>G, NM_001321710.1:c.77A>G, NM_001321709.2:c.77A>G, NM_001321709.1:c.77A>G, XM_047421020.1:c.977A>G, NM_001388092.1:c.977A>G, XM_047421021.1:c.977A>G, XM_047421022.1:c.977A>G, XM_047421023.1:c.977A>G, NP_004708.1:p.Lys326Arg, NP_001308637.1:p.Lys326Arg, NP_001308639.1:p.Lys26Arg, NP_001308638.1:p.Lys26Arg, XP_047276976.1:p.Lys326Arg, NP_001375021.1:p.Lys326Arg, XP_047276977.1:p.Lys326Arg, XP_047276978.1:p.Lys326Arg, XP_047276979.1:p.Lys326Arg

Select item 144843345920.

rs1448433459 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:137571271 (GRCh38)
7:137256017 (GRCh37)
Canonical SPDI:: NC_000007.14:137571270:T:C
Gene:: DGKI (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.137571271T>C, NC_000007.13:g.137256017T>C, NM_004717.3:c.1851A>G, NM_004717.2:c.1851A>G, NM_001321708.2:c.1851A>G, NM_001321708.1:c.1851A>G, NM_001321710.2:c.951A>G, NM_001321710.1:c.951A>G, NM_001321709.2:c.951A>G, NM_001321709.1:c.951A>G, XM_047421020.1:c.1851A>G, NM_001388092.1:c.1851A>G, XM_047421021.1:c.1851A>G, XM_047421022.1:c.1851A>G

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 556

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity