Linked Data
ClinVar Variation Id:
40993
ClinVar RCV Id:
RCV000033885
dbSNP Id:
rs312262900
PubMed:
PMID:20301660
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785056G>T , CM000681.2:g.18785056G>T | GRCh38 |
| NC_000019.9:g.18895866G>T , CM000681.1:g.18895866G>T | GRCh37 |
| NC_000019.8:g.18756866G>T | NCBI36 |
| NG_007070.1:g.11249C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1754C>A MANE Select | ENSP00000222271.2:p.Thr585Lys | |
| ENST00000222271.6:c.1754C>A | ENSP00000222271.2:p.Thr585Lys | |
| ENST00000425807.1:c.1595C>A | ENSP00000403792.1:p.Thr532Lys | |
| ENST00000542601.6:c.1655C>A | ENSP00000439156.2:p.Thr552Lys | |
| NM_000095.2:c.1754C>A | NP_000086.2:p.Thr585Lys | |
| NM_000095.3:c.1754C>A MANE Select | NP_000086.2:p.Thr585Lys |