Linked Data
ClinVar Variation Id:
13519
ClinVar RCV Id:
RCV000014474
dbSNP Id:
rs121918041
PubMed:
PMID:8650545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88043351C>T , CM000666.2:g.88043351C>T | GRCh38 |
| NC_000004.11:g.88964503C>T , CM000666.1:g.88964503C>T | GRCh37 |
| NC_000004.10:g.89183527C>T | NCBI36 |
| NG_008604.1:g.40684C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237596.7:c.1213C>T MANE Select | ENSP00000237596.2:p.Gln405Ter | |
| ENST00000237596.6:c.1213C>T | ENSP00000237596.2:p.Gln405Ter | |
| ENST00000506367.1:n.660C>T | ||
| ENST00000508588.5:c.-305C>T | ENSP00000427131.1:n.-305C>T | |
| NM_000297.3:c.1213C>T | NP_000288.1:p.Gln405Ter | |
| XM_011532028.1:c.1095-3291C>T | XP_011530330.1:n.1095-3291C>T | |
| XM_011532029.1:c.493C>T | XP_011530331.1:p.Gln165Ter | |
| XM_011532030.1:c.373C>T | XP_011530332.1:p.Gln125Ter | |
| XR_244632.2:n.1308C>T | ||
| NR_156488.1:n.1300C>T | ||
| XM_011532028.2:c.1095-3291C>T | XP_011530330.1:n.1095-3291C>T | |
| XM_011532030.2:c.373C>T | XP_011530332.1:p.Gln125Ter | |
| NM_000297.4:c.1213C>T MANE Select | NP_000288.1:p.Gln405Ter | |
| NR_156488.2:n.1312C>T |