Linked Data
ClinVar Variation Id:
8873
ClinVar RCV Id:
RCV000009423
dbSNP Id:
rs121917861
PubMed:
PMID:16871364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219057549G>A , CM000664.2:g.219057549G>A | GRCh38 |
| NC_000002.11:g.219922271G>A , CM000664.1:g.219922271G>A | GRCh37 |
| NC_000002.10:g.219630515G>A | NCBI36 |
| NG_016741.1:g.7968C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295731.7:c.461C>T MANE Select | ENSP00000295731.5:p.Thr154Ile | |
| ENST00000295731.6:c.461C>T | ENSP00000295731.5:p.Thr154Ile | |
| NM_002181.3:c.461C>T | NP_002172.2:p.Thr154Ile | |
| NM_002181.4:c.461C>T MANE Select | NP_002172.2:p.Thr154Ile |