Linked Data
ClinVar Variation Id:
528460
dbSNP Id:
rs6755258
ExAC:
2:47251490 G / A
gnomAD v2:
2-47251490-G-A
gnomAD v3:
2-47024351-G-A
gnomAD v4:
2-47024351-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47024351G>A , CM000664.2:g.47024351G>A | GRCh38 |
| NC_000002.11:g.47251490G>A , CM000664.1:g.47251490G>A | GRCh37 |
| NC_000002.10:g.47104994G>A | NCBI36 |
| NG_034143.1:g.113223G>A | |
| NG_034143.2:g.113223G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.3466G>A | ||
| ENST00000319190.11:c.1633G>A MANE Select | ENSP00000316699.5:p.Val545Ile | |
| ENST00000651101.1:n.581G>A | ||
| ENST00000651415.1:n.424G>A | ||
| ENST00000652236.1:n.334G>A | ||
| ENST00000652568.1:n.306G>A | ||
| ENST00000319190.9:c.1633G>A | ENSP00000316699.5:p.Val545Ile | |
| ENST00000394850.6:c.1633G>A | ENSP00000378320.2:p.Val545Ile | |
| ENST00000409245.5:c.1531G>A | ENSP00000386307.1:p.Val511Ile | |
| ENST00000409825.5:c.1581G>A | ||
| ENST00000440051.1:c.440G>A | ||
| ENST00000441914.5:c.1474G>A | ||
| ENST00000461601.5:n.1958G>A | ||
| ENST00000484061.5:n.740G>A | ||
| ENST00000491786.5:n.1037G>A | ||
| NM_001288951.1:c.1633G>A | NP_001275880.1:p.Val545Ile | |
| NM_001288953.1:c.1531G>A | NP_001275882.1:p.Val511Ile | |
| NM_001288955.1:c.571G>A | NP_001275884.1:p.Val191Ile | |
| NM_020458.3:c.1633G>A | NP_065191.2:p.Val545Ile | |
| XM_005264439.2:c.1276G>A | XP_005264496.1:p.Val426Ile | |
| XM_011532998.1:c.1276G>A | XP_011531300.1:p.Val426Ile | |
| XM_011532999.1:c.1633G>A | XP_011531301.1:p.Val545Ile | |
| XM_011533000.1:c.853G>A | XP_011531302.1:p.Val285Ile | |
| XM_011533001.1:c.586G>A | XP_011531303.1:p.Val196Ile | |
| XR_939696.1:n.1938G>A | ||
| XM_005264439.4:c.1276G>A | XP_005264496.1:p.Val426Ile | |
| XM_011532998.3:c.1276G>A | XP_011531300.1:p.Val426Ile | |
| XM_011532999.2:c.1633G>A | XP_011531301.1:p.Val545Ile | |
| XM_011533000.3:c.853G>A | XP_011531302.1:p.Val285Ile | |
| XM_011533001.3:c.586G>A | XP_011531303.1:p.Val196Ile | |
| XM_017004524.1:c.1633G>A | XP_016860013.1:p.Val545Ile | |
| XM_017004525.1:c.1465G>A | XP_016860014.1:p.Val489Ile | |
| XM_017004526.1:c.1393-4873G>A | XP_016860015.1:n.1393-4873G>A | |
| XM_017004529.1:c.1633G>A | XP_016860018.1:p.Val545Ile | |
| XM_024453013.1:c.598G>A | XP_024308781.1:p.Val200Ile | |
| XR_001738853.2:n.1945G>A | ||
| XR_001738854.1:n.1826G>A | ||
| NM_020458.4:c.1633G>A MANE Select | NP_065191.2:p.Val545Ile | |
| NM_001288951.2:c.1633G>A | NP_001275880.1:p.Val545Ile | |
| NM_001288953.2:c.1531G>A | NP_001275882.1:p.Val511Ile | |
| NM_001288955.2:c.571G>A | NP_001275884.1:p.Val191Ile |