SNP Links for Nucleotide (Select 297206832) - SNP - NCBI

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Links from Nucleotide

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Select item 14881211481.

rs1488121148 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:148523288 (GRCh38)
5:147902851 (GRCh37)
Canonical SPDI:: NC_000005.10:148523287:T:C
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.148523288T>C, NC_000005.9:g.147902851T>C, NG_029052.1:g.135889A>G, NM_000870.7:c.412A>G, NM_000870.6:c.412A>G, NM_000870.5:c.412A>G, NM_199453.3:c.412A>G, NR_104445.2:n.925A>G, NR_104445.1:n.925A>G, NM_001040173.2:c.412A>G, NM_001040169.2:c.412A>G, NM_001040172.2:c.412A>G, NM_001286410.1:c.412A>G, NM_001040174.1:c.412A>G, NM_001040171.1:c.412A>G, NP_000861.1:p.Ile138Val, NP_955525.1:p.Ile138Val, NP_001035263.1:p.Ile138Val, NP_001035259.1:p.Ile138Val, NP_001035262.2:p.Ile138Val, NP_001273339.1:p.Ile138Val

Select item 14878227342.

rs1487822734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:148509669 (GRCh38)
5:147889232 (GRCh37)
Canonical SPDI:: NC_000005.10:148509668:G:A
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.148509669G>A, NC_000005.9:g.147889232G>A, NG_029052.1:g.149508C>T, NM_000870.7:c.863C>T, NM_000870.6:c.863C>T, NM_000870.5:c.863C>T, NM_199453.3:c.863C>T, NR_104445.2:n.1376C>T, NR_104445.1:n.1376C>T, NM_001040173.2:c.863C>T, NM_001040169.2:c.863C>T, NM_001040172.2:c.863C>T, NM_001286410.1:c.863C>T, NM_001040174.1:c.863C>T, NM_001040171.1:c.863C>T, NP_000861.1:p.Thr288Ile, NP_955525.1:p.Thr288Ile, NP_001035263.1:p.Thr288Ile, NP_001035259.1:p.Thr288Ile, NP_001035262.2:p.Thr288Ile, NP_001273339.1:p.Thr288Ile

Select item 14831376093.

rs1483137609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:148509894 (GRCh38)
5:147889457 (GRCh37)
Canonical SPDI:: NC_000005.10:148509893:T:A
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.148509894T>A, NC_000005.9:g.147889457T>A, NG_029052.1:g.149283A>T, NM_000870.7:c.638A>T, NM_000870.6:c.638A>T, NM_000870.5:c.638A>T, NM_199453.3:c.638A>T, NR_104445.2:n.1151A>T, NR_104445.1:n.1151A>T, NM_001040173.2:c.638A>T, NM_001040169.2:c.638A>T, NM_001040172.2:c.638A>T, NM_001286410.1:c.638A>T, NM_001040174.1:c.638A>T, NM_001040171.1:c.638A>T, NP_000861.1:p.Tyr213Phe, NP_955525.1:p.Tyr213Phe, NP_001035263.1:p.Tyr213Phe, NP_001035259.1:p.Tyr213Phe, NP_001035262.2:p.Tyr213Phe, NP_001273339.1:p.Tyr213Phe

Select item 14776519004.

rs1477651900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:148509581 (GRCh38)
5:147889144 (GRCh37)
Canonical SPDI:: NC_000005.10:148509580:C:T
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.148509581C>T, NC_000005.9:g.147889144C>T, NG_029052.1:g.149596G>A, NM_000870.7:c.951G>A, NM_000870.6:c.951G>A, NM_000870.5:c.951G>A, NM_199453.3:c.951G>A, NR_104445.2:n.1464G>A, NR_104445.1:n.1464G>A, NM_001040173.2:c.951G>A, NM_001040169.2:c.951G>A, NM_001040172.2:c.951G>A, NM_001286410.1:c.951G>A, NM_001040174.1:c.951G>A, NM_001040171.1:c.951G>A

Select item 14773563935.

rs1477356393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:148523237 (GRCh38)
5:147902800 (GRCh37)
Canonical SPDI:: NC_000005.10:148523236:G:A,NC_000005.10:148523236:G:T
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.148523237G>A, NC_000005.10:g.148523237G>T, NC_000005.9:g.147902800G>A, NC_000005.9:g.147902800G>T, NG_029052.1:g.135940C>T, NG_029052.1:g.135940C>A, NM_000870.7:c.463C>T, NM_000870.7:c.463C>A, NM_000870.6:c.463C>T, NM_000870.6:c.463C>A, NM_000870.5:c.463C>T, NM_000870.5:c.463C>A, NM_199453.3:c.463C>T, NM_199453.3:c.463C>A, NR_104445.2:n.976C>T, NR_104445.2:n.976C>A, NR_104445.1:n.976C>T, NR_104445.1:n.976C>A, NM_001040173.2:c.463C>T, NM_001040173.2:c.463C>A, NM_001040169.2:c.463C>T, NM_001040169.2:c.463C>A, NM_001040172.2:c.463C>T, NM_001040172.2:c.463C>A, NM_001286410.1:c.463C>T, NM_001286410.1:c.463C>A, NM_001040174.1:c.463C>T, NM_001040174.1:c.463C>A, NM_001040171.1:c.463C>T, NM_001040171.1:c.463C>A, NP_000861.1:p.Leu155Phe, NP_000861.1:p.Leu155Ile, NP_955525.1:p.Leu155Phe, NP_955525.1:p.Leu155Ile, NP_001035263.1:p.Leu155Phe, NP_001035263.1:p.Leu155Ile, NP_001035259.1:p.Leu155Phe, NP_001035259.1:p.Leu155Ile, NP_001035262.2:p.Leu155Phe, NP_001035262.2:p.Leu155Ile, NP_001273339.1:p.Leu155Phe, NP_001273339.1:p.Leu155Ile

Select item 14756537336.

rs1475653733 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:148509927 (GRCh38)
5:147889490 (GRCh37)
Canonical SPDI:: NC_000005.10:148509926:T:C
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00066/10 (ALFA)
C=0.000064/9 (GnomAD)
C=0.002232/10 (Estonian)
HGVS:: NC_000005.10:g.148509927T>C, NC_000005.9:g.147889490T>C, NG_029052.1:g.149250A>G, NM_000870.7:c.605A>G, NM_000870.6:c.605A>G, NM_000870.5:c.605A>G, NM_199453.3:c.605A>G, NR_104445.2:n.1118A>G, NR_104445.1:n.1118A>G, NM_001040173.2:c.605A>G, NM_001040169.2:c.605A>G, NM_001040172.2:c.605A>G, NM_001286410.1:c.605A>G, NM_001040174.1:c.605A>G, NM_001040171.1:c.605A>G, NP_000861.1:p.Tyr202Cys, NP_955525.1:p.Tyr202Cys, NP_001035263.1:p.Tyr202Cys, NP_001035259.1:p.Tyr202Cys, NP_001035262.2:p.Tyr202Cys, NP_001273339.1:p.Tyr202Cys

Select item 14755974387.

rs1475597438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:148509521 (GRCh38)
5:147889084 (GRCh37)
Canonical SPDI:: NC_000005.10:148509520:A:G
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.148509521A>G, NC_000005.9:g.147889084A>G, NG_029052.1:g.149656T>C, NM_000870.7:c.1011T>C, NM_000870.6:c.1011T>C, NM_000870.5:c.1011T>C, NM_199453.3:c.1011T>C, NR_104445.2:n.1524T>C, NR_104445.1:n.1524T>C, NM_001040173.2:c.1011T>C, NM_001040169.2:c.1011T>C, NM_001040172.2:c.1011T>C, NM_001286410.1:c.1011T>C, NM_001040174.1:c.1011T>C, NM_001040171.1:c.1011T>C

Select item 14739076358.

rs1473907635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:148637051 (GRCh38)
5:148016614 (GRCh37)
Canonical SPDI:: NC_000005.10:148637050:C:T
Gene:: HTR4 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.148637051C>T, NC_000005.9:g.148016614C>T, NG_029052.1:g.22126G>A, NM_000870.7:c.-37G>A, NM_000870.6:c.-37G>A, NM_000870.5:c.-37G>A, NM_199453.3:c.-37G>A, NR_104445.2:n.477G>A, NR_104445.1:n.477G>A, NM_001040173.2:c.-37G>A, NM_001040169.2:c.-37G>A, NM_001040172.2:c.-37G>A, NM_001286410.1:c.-37G>A, NM_001040174.1:c.-37G>A, NM_001040171.1:c.-37G>A

Select item 14737420699.

rs1473742069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:148509538 (GRCh38)
5:147889101 (GRCh37)
Canonical SPDI:: NC_000005.10:148509537:C:T
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.148509538C>T, NC_000005.9:g.147889101C>T, NG_029052.1:g.149639G>A, NM_000870.7:c.994G>A, NM_000870.6:c.994G>A, NM_000870.5:c.994G>A, NM_199453.3:c.994G>A, NR_104445.2:n.1507G>A, NR_104445.1:n.1507G>A, NM_001040173.2:c.994G>A, NM_001040169.2:c.994G>A, NM_001040172.2:c.994G>A, NM_001286410.1:c.994G>A, NM_001040174.1:c.994G>A, NM_001040171.1:c.994G>A, NP_000861.1:p.Glu332Lys, NP_955525.1:p.Glu332Lys, NP_001035263.1:p.Glu332Lys, NP_001035259.1:p.Glu332Lys, NP_001035262.2:p.Glu332Lys, NP_001273339.1:p.Glu332Lys

Select item 147075186710.

rs1470751867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:148509965 (GRCh38)
5:147889528 (GRCh37)
Canonical SPDI:: NC_000005.10:148509964:G:A
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.148509965G>A, NC_000005.9:g.147889528G>A, NG_029052.1:g.149212C>T, NM_000870.7:c.567C>T, NM_000870.6:c.567C>T, NM_000870.5:c.567C>T, NM_199453.3:c.567C>T, NR_104445.2:n.1080C>T, NR_104445.1:n.1080C>T, NM_001040173.2:c.567C>T, NM_001040169.2:c.567C>T, NM_001040172.2:c.567C>T, NM_001286410.1:c.567C>T, NM_001040174.1:c.567C>T, NM_001040171.1:c.567C>T

Select item 146667619511.

rs1466676195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:148548668 (GRCh38)
5:147928231 (GRCh37)
Canonical SPDI:: NC_000005.10:148548667:C:T
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.148548668C>T, NC_000005.9:g.147928231C>T, NG_029052.1:g.110509G>A, NM_000870.7:c.353G>A, NM_000870.6:c.353G>A, NM_000870.5:c.353G>A, NM_199453.3:c.353G>A, NR_104445.2:n.866G>A, NR_104445.1:n.866G>A, NM_001040173.2:c.353G>A, NM_001040169.2:c.353G>A, NM_001040172.2:c.353G>A, NM_001286410.1:c.353G>A, NM_001040174.1:c.353G>A, NM_001040171.1:c.353G>A, NP_000861.1:p.Arg118Lys, NP_955525.1:p.Arg118Lys, NP_001035263.1:p.Arg118Lys, NP_001035259.1:p.Arg118Lys, NP_001035262.2:p.Arg118Lys, NP_001273339.1:p.Arg118Lys

Select item 146264034912.

rs1462640349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:148509513 (GRCh38)
5:147889076 (GRCh37)
Canonical SPDI:: NC_000005.10:148509512:A:G
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000029/4 (GnomAD)
G=0.000053/14 (TOPMED)
HGVS:: NC_000005.10:g.148509513A>G, NC_000005.9:g.147889076A>G, NG_029052.1:g.149664T>C, NM_000870.7:c.1019T>C, NM_000870.6:c.1019T>C, NM_000870.5:c.1019T>C, NM_199453.3:c.1019T>C, NR_104445.2:n.1532T>C, NR_104445.1:n.1532T>C, NM_001040173.2:c.1019T>C, NM_001040169.2:c.1019T>C, NM_001040172.2:c.1019T>C, NM_001286410.1:c.1019T>C, NM_001040174.1:c.1019T>C, NM_001040171.1:c.1019T>C, NP_000861.1:p.Leu340Pro, NP_955525.1:p.Leu340Pro, NP_001035263.1:p.Leu340Pro, NP_001035259.1:p.Leu340Pro, NP_001035262.2:p.Leu340Pro, NP_001273339.1:p.Leu340Pro

Select item 146150265413.

rs1461502654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:148476656 (GRCh38)
5:147856219 (GRCh37)
Canonical SPDI:: NC_000005.10:148476655:G:C
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.148476656G>C, NC_000005.9:g.147856219G>C, NG_029052.1:g.182521C>G, NM_001040172.2:c.*83C>G, NM_001040171.1:c.*83C>G

Select item 145983986514.

rs1459839865 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 5:148637003 (GRCh38)
5:148016567 (GRCh37)
Canonical SPDI:: NC_000005.10:148637003::TG
Gene:: HTR4 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: TG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.148637003_148637004insTG, NC_000005.9:g.148016566_148016567insTG, NG_029052.1:g.22173_22174insCA, NM_000870.7:c.11_12insCA, NM_000870.6:c.11_12insCA, NM_000870.5:c.11_12insCA, NM_199453.3:c.11_12insCA, NR_104445.2:n.524_525insCA, NR_104445.1:n.524_525insCA, NM_001040173.2:c.11_12insCA, NM_001040169.2:c.11_12insCA, NM_001040172.2:c.11_12insCA, NM_001286410.1:c.11_12insCA, NM_001040174.1:c.11_12insCA, NM_001040171.1:c.11_12insCA, NP_000861.1:p.Asp5fs, NP_955525.1:p.Asp5fs, NP_001035263.1:p.Asp5fs, NP_001035259.1:p.Asp5fs, NP_001035262.2:p.Asp5fs, NP_001273339.1:p.Asp5fs

Select item 145947735215.

rs1459477352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:148637033 (GRCh38)
5:148016596 (GRCh37)
Canonical SPDI:: NC_000005.10:148637032:G:A
Gene:: HTR4 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.148637033G>A, NC_000005.9:g.148016596G>A, NG_029052.1:g.22144C>T, NM_000870.7:c.-19C>T, NM_000870.6:c.-19C>T, NM_000870.5:c.-19C>T, NM_199453.3:c.-19C>T, NR_104445.2:n.495C>T, NR_104445.1:n.495C>T, NM_001040173.2:c.-19C>T, NM_001040169.2:c.-19C>T, NM_001040172.2:c.-19C>T, NM_001286410.1:c.-19C>T, NM_001040174.1:c.-19C>T, NM_001040171.1:c.-19C>T

Select item 145607945116.

rs1456079451 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:148509501 (GRCh38)
5:147889064 (GRCh37)
Canonical SPDI:: NC_000005.10:148509500:A:G
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.148509501A>G, NC_000005.9:g.147889064A>G, NG_029052.1:g.149676T>C, NM_000870.7:c.1031T>C, NM_000870.6:c.1031T>C, NM_000870.5:c.1031T>C, NM_199453.3:c.1031T>C, NR_104445.2:n.1544T>C, NR_104445.1:n.1544T>C, NM_001040173.2:c.1031T>C, NM_001040169.2:c.1031T>C, NM_001040172.2:c.1031T>C, NM_001286410.1:c.1031T>C, NM_001040174.1:c.1031T>C, NM_001040171.1:c.1031T>C, NP_000861.1:p.Val344Ala, NP_955525.1:p.Val344Ala, NP_001035263.1:p.Val344Ala, NP_001035259.1:p.Val344Ala, NP_001035262.2:p.Val344Ala, NP_001273339.1:p.Val344Ala

Select item 145317589617.

rs1453175896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:148636999 (GRCh38)
5:148016562 (GRCh37)
Canonical SPDI:: NC_000005.10:148636998:C:T
Gene:: HTR4 (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=0.00002/5 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.148636999C>T, NC_000005.9:g.148016562C>T, NG_029052.1:g.22178G>A, NM_000870.7:c.16G>A, NM_000870.6:c.16G>A, NM_000870.5:c.16G>A, NM_199453.3:c.16G>A, NR_104445.2:n.529G>A, NR_104445.1:n.529G>A, NM_001040173.2:c.16G>A, NM_001040169.2:c.16G>A, NM_001040172.2:c.16G>A, NM_001286410.1:c.16G>A, NM_001040174.1:c.16G>A, NM_001040171.1:c.16G>A, NP_000861.1:p.Ala6Thr, NP_955525.1:p.Ala6Thr, NP_001035263.1:p.Ala6Thr, NP_001035259.1:p.Ala6Thr, NP_001035262.2:p.Ala6Thr, NP_001273339.1:p.Ala6Thr

Select item 145021220518.

rs1450212205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:148550204 (GRCh38)
5:147929767 (GRCh37)
Canonical SPDI:: NC_000005.10:148550203:C:T
Gene:: HTR4 (Varview), LOC107986462 (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_000005.10:g.148550204C>T, NC_000005.9:g.147929767C>T, NG_029052.1:g.108973G>A, NM_000870.7:c.85G>A, NM_000870.6:c.85G>A, NM_000870.5:c.85G>A, NM_199453.3:c.85G>A, NR_104445.2:n.598G>A, NR_104445.1:n.598G>A, NM_001040173.2:c.85G>A, NM_001040169.2:c.85G>A, NM_001040172.2:c.85G>A, NM_001286410.1:c.85G>A, XR_001742935.2:n.561C>T, NM_001040174.1:c.85G>A, NM_001040171.1:c.85G>A, NP_000861.1:p.Val29Ile, NP_955525.1:p.Val29Ile, NP_001035263.1:p.Val29Ile, NP_001035259.1:p.Val29Ile, NP_001035262.2:p.Val29Ile, NP_001273339.1:p.Val29Ile

Select item 144988546119.

rs1449885461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:148523293 (GRCh38)
5:147902856 (GRCh37)
Canonical SPDI:: NC_000005.10:148523292:A:G
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.148523293A>G, NC_000005.9:g.147902856A>G, NG_029052.1:g.135884T>C, NM_000870.7:c.407T>C, NM_000870.6:c.407T>C, NM_000870.5:c.407T>C, NM_199453.3:c.407T>C, NR_104445.2:n.920T>C, NR_104445.1:n.920T>C, NM_001040173.2:c.407T>C, NM_001040169.2:c.407T>C, NM_001040172.2:c.407T>C, NM_001286410.1:c.407T>C, NM_001040174.1:c.407T>C, NM_001040171.1:c.407T>C, NP_000861.1:p.Leu136Pro, NP_955525.1:p.Leu136Pro, NP_001035263.1:p.Leu136Pro, NP_001035259.1:p.Leu136Pro, NP_001035262.2:p.Leu136Pro, NP_001273339.1:p.Leu136Pro

Select item 144844936220.

rs1448449362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:148548755 (GRCh38)
5:147928318 (GRCh37)
Canonical SPDI:: NC_000005.10:148548754:C:G
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.148548755C>G, NC_000005.9:g.147928318C>G, NG_029052.1:g.110422G>C, NM_000870.7:c.266G>C, NM_000870.6:c.266G>C, NM_000870.5:c.266G>C, NM_199453.3:c.266G>C, NR_104445.2:n.779G>C, NR_104445.1:n.779G>C, NM_001040173.2:c.266G>C, NM_001040169.2:c.266G>C, NM_001040172.2:c.266G>C, NM_001286410.1:c.266G>C, NM_001040174.1:c.266G>C, NM_001040171.1:c.266G>C, NP_000861.1:p.Gly89Ala, NP_955525.1:p.Gly89Ala, NP_001035263.1:p.Gly89Ala, NP_001035259.1:p.Gly89Ala, NP_001035262.2:p.Gly89Ala, NP_001273339.1:p.Gly89Ala

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