Linked Data
ClinVar Variation Id:
2307
dbSNP Id:
rs119103255
ExAC:
11:64519438 G / A
gnomAD v2:
11-64519438-G-A
gnomAD v3:
11-64751966-G-A
gnomAD v4:
11-64751966-G-A
COSMIC:
COSM1222834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751966G>A , CM000673.2:g.64751966G>A | GRCh38 |
| NC_000011.9:g.64519438G>A , CM000673.1:g.64519438G>A | GRCh37 |
| NC_000011.8:g.64276014G>A | NCBI36 |
| NG_013018.1:g.13750C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1726C>T MANE Select | ENSP00000164139.3:p.Arg576Ter | |
| ENST00000164139.3:c.1726C>T | ENSP00000164139.3:p.Arg576Ter | |
| ENST00000377432.7:c.1462C>T | ENSP00000366650.3:p.Arg488Ter | |
| ENST00000462303.1:n.50C>T | ||
| NM_001164716.1:c.1462C>T | NP_001158188.1:p.Arg488Ter | |
| NM_005609.2:c.1726C>T | NP_005600.1:p.Arg576Ter | |
| NM_005609.3:c.1726C>T | NP_005600.1:p.Arg576Ter | |
| NM_005609.4:c.1726C>T MANE Select | NP_005600.1:p.Arg576Ter |