Linked Data
ClinVar Variation Id:
13830
ClinVar RCV Id:
RCV000014842
dbSNP Id:
rs121917715
PubMed:
PMID:9302279
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.42023479G>A , CM000669.2:g.42023479G>A | GRCh38 |
| NC_000007.13:g.42063078G>A , CM000669.1:g.42063078G>A | GRCh37 |
| NC_000007.12:g.42029603G>A | NCBI36 |
| NG_008434.1:g.218541C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395925.8:c.1486C>T MANE Select | ENSP00000379258.3:p.Gln496Ter | |
| ENST00000677288.1:c.1312C>T | ENSP00000503986.1:p.Gln438Ter | |
| ENST00000677605.1:c.1486C>T | ENSP00000503743.1:p.Gln496Ter | |
| ENST00000678429.1:c.1486C>T | ENSP00000502957.1:p.Gln496Ter | |
| ENST00000395925.7:c.1486C>T | ENSP00000379258.3:p.Gln496Ter | |
| ENST00000479210.1:n.1463C>T | ||
| NM_000168.5:c.1486C>T | NP_000159.3:p.Gln496Ter | |
| XM_005249703.1:c.1486C>T | XP_005249760.1:p.Gln496Ter | |
| XM_005249704.2:c.1486C>T | XP_005249761.1:p.Gln496Ter | |
| XM_011515272.1:c.1486C>T | XP_011513574.1:p.Gln496Ter | |
| XM_011515273.1:c.1486C>T | XP_011513575.1:p.Gln496Ter | |
| XM_011515274.1:c.1309C>T | XP_011513576.1:p.Gln437Ter | |
| XM_011515274.2:c.1309C>T | XP_011513576.1:p.Gln437Ter | |
| XM_017011997.1:c.1483C>T | XP_016867486.1:p.Gln495Ter | |
| NM_000168.6:c.1486C>T MANE Select | NP_000159.3:p.Gln496Ter |