Linked Data
ClinVar Variation Id:
13591
dbSNP Id:
rs121918025
gnomAD v4:
6-131861704-G-T
PubMed:
PMID:15940697
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131861704G>T , CM000668.2:g.131861704G>T | GRCh38 |
| NC_000006.11:g.132182844G>T , CM000668.1:g.132182844G>T | GRCh37 |
| NC_000006.10:g.132224537G>T | NCBI36 |
| NG_008206.1:g.58689G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647893.1:c.1025G>T MANE Select | ENSP00000498074.1:p.Gly342Val | |
| ENST00000650147.1:c.642G>T | ||
| ENST00000650437.1:c.516G>T | ||
| ENST00000360971.6:c.1025G>T | ENSP00000354238.2:p.Gly342Val | |
| ENST00000459624.1:n.95G>T | ||
| ENST00000513998.5:c.1025G>T | ENSP00000422424.1:p.Gly342Val | |
| NM_006208.2:c.1025G>T | NP_006199.2:p.Gly342Val | |
| NM_006208.3:c.1025G>T MANE Select | NP_006199.2:p.Gly342Val |