Linked Data
ClinVar Variation Id:
134542
dbSNP Id:
rs149968614
ExAC:
1:65312368 C / T
gnomAD v2:
1-65312368-C-T
gnomAD v3:
1-64846685-C-T
gnomAD v4:
1-64846685-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64846685C>T , CM000663.2:g.64846685C>T | GRCh38 |
| NC_000001.10:g.65312368C>T , CM000663.1:g.65312368C>T | GRCh37 |
| NC_000001.9:g.65084956C>T | NCBI36 |
| NG_023402.1:g.124820G>A | |
| NG_023402.2:g.226062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465376.7:n.291G>A | ||
| ENST00000671746.2:c.*1859G>A | ENSP00000500065.1:n.*1859G>A | |
| ENST00000671929.2:c.1951G>A | ENSP00000500485.1:p.Val651Met | |
| ENST00000671954.2:c.1951G>A | ENSP00000500841.1:p.Val651Met | |
| ENST00000672179.2:c.1951G>A | ENSP00000500296.1:p.Val651Met | |
| ENST00000672247.2:c.1951G>A | ENSP00000499884.1:p.Val651Met | |
| ENST00000672434.2:c.1951G>A | ENSP00000499900.1:p.Val651Met | |
| ENST00000672574.2:c.1951G>A | ENSP00000500714.2:p.Val651Met | |
| ENST00000672751.2:c.1951G>A | ENSP00000500745.2:p.Val651Met | |
| ENST00000673246.2:c.1822G>A | ENSP00000499942.2:p.Val608Met | |
| ENST00000673314.2:n.2242G>A | ||
| ENST00000673502.2:n.2402G>A | ||
| ENST00000699259.1:c.1948G>A | ENSP00000514240.1:p.Val650Met | |
| ENST00000699260.1:c.1948G>A | ENSP00000514241.1:p.Val650Met | |
| ENST00000699261.1:c.1948G>A | ENSP00000514242.1:p.Val650Met | |
| ENST00000699262.1:c.1951G>A | ENSP00000514243.1:p.Val651Met | |
| ENST00000699310.1:c.1945G>A | ENSP00000514289.1:p.Val649Met | |
| ENST00000699311.1:c.*611G>A | ENSP00000514290.1:n.*611G>A | |
| ENST00000699312.1:c.1951G>A | ENSP00000514291.1:p.Val651Met | |
| ENST00000699313.1:c.*611G>A | ENSP00000514292.1:n.*611G>A | |
| ENST00000342505.5:c.1951G>A MANE Select | ENSP00000343204.4:p.Val651Met | |
| ENST00000465376.6:n.252G>A | ||
| ENST00000671746.1:c.*1859G>A | ENSP00000500065.1:n.*1859G>A | |
| ENST00000671929.1:c.1951G>A | ENSP00000500485.1:p.Val651Met | |
| ENST00000671954.1:c.1951G>A | ENSP00000500841.1:p.Val651Met | |
| ENST00000672179.1:c.1951G>A | ENSP00000500296.1:p.Val651Met | |
| ENST00000672247.1:c.1951G>A | ENSP00000499884.1:p.Val651Met | |
| ENST00000672434.1:c.1951G>A | ENSP00000499900.1:p.Val651Met | |
| ENST00000673046.1:c.1951G>A | ENSP00000500878.1:p.Val651Met | |
| ENST00000673220.1:c.*4511G>A | ENSP00000500422.1:n.*4511G>A | |
| ENST00000673246.1:c.1466G>A | ||
| ENST00000673254.1:c.1819G>A | ENSP00000500476.1:p.Val607Met | |
| ENST00000673314.1:n.2039G>A | ||
| ENST00000673502.1:c.1951G>A | ENSP00000500011.1:p.Val651Met | |
| ENST00000342505.4:c.1951G>A | ENSP00000343204.4:p.Val651Met | |
| ENST00000465376.5:n.234G>A | ||
| ENST00000471473.1:n.225G>A | ||
| NM_002227.2:c.1951G>A | NP_002218.2:p.Val651Met | |
| XM_005270841.1:c.1951G>A | XP_005270898.1:p.Val651Met | |
| XM_006710624.1:c.1951G>A | XP_006710687.1:p.Val651Met | |
| XM_011541395.1:c.1948G>A | XP_011539697.1:p.Val650Met | |
| NM_001320923.1:c.1951G>A | NP_001307852.1:p.Val651Met | |
| NM_001321852.1:c.1951G>A | NP_001308781.1:p.Val651Met | |
| NM_001321853.1:c.1951G>A | NP_001308782.1:p.Val651Met | |
| NM_001321854.1:c.1951G>A | NP_001308783.1:p.Val651Met | |
| NM_001321855.1:c.1951G>A | NP_001308784.1:p.Val651Met | |
| NM_001321856.1:c.1951G>A | NP_001308785.1:p.Val651Met | |
| NM_001321857.1:c.1948G>A | NP_001308786.1:p.Val650Met | |
| NM_002227.3:c.1951G>A | NP_002218.2:p.Val651Met | |
| NM_002227.4:c.1951G>A MANE Select | NP_002218.2:p.Val651Met | |
| NM_001321852.2:c.1951G>A | NP_001308781.1:p.Val651Met | |
| NM_001321853.2:c.1951G>A | NP_001308782.1:p.Val651Met | |
| NM_001321854.2:c.1951G>A | NP_001308783.1:p.Val651Met | |
| NM_001321855.2:c.1951G>A | NP_001308784.1:p.Val651Met | |
| NM_001321857.2:c.1948G>A | NP_001308786.1:p.Val650Met | |
| NM_001320923.2:c.1951G>A | NP_001307852.1:p.Val651Met | |
| NM_001321856.2:c.1951G>A | NP_001308785.1:p.Val651Met |