Linked Data
ClinVar Variation Id:
208839
ClinVar RCV Id:
RCV000190859
dbSNP Id:
rs797045132
PubMed:
PMID:22541558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149926457G>A , CM000663.2:g.149926457G>A | GRCh38 |
| NC_000001.10:g.149898349G>A , CM000663.1:g.149898349G>A | GRCh37 |
| NC_000001.9:g.148164973G>A | NCBI36 |
| NG_032777.1:g.6796C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.625C>T MANE Select | ENSP00000271628.8:p.Gln209Ter | |
| ENST00000271628.8:c.625C>T | ENSP00000271628.8:p.Gln209Ter | |
| ENST00000457312.1:c.496C>T | ENSP00000391114.1:p.Gln166Ter | |
| NM_005850.4:c.625C>T | NP_005841.1:p.Gln209Ter | |
| NM_005850.5:c.625C>T MANE Select | NP_005841.1:p.Gln209Ter |