Linked Data
ClinVar Variation Id:
1943195
ClinVar RCV Id:
RCV002647173
COSMIC:
COSM1630481
MyVariant Identifiers:
chr17:g.80037290G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82079414G>T , CM000679.2:g.82079414G>T | GRCh38 |
| NC_000017.10:g.80037290G>T , CM000679.1:g.80037290G>T | GRCh37 |
| NC_000017.9:g.77630579G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306749.4:c.7341C>A MANE Select | ENSP00000304592.2:p.Arg2447= | |
| ENST00000306749.3:c.7341C>A | ENSP00000304592.2:p.Arg2447= | |
| ENST00000578424.2:n.620C>A | ||
| ENST00000580382.1:c.511C>A | ||
| ENST00000584610.2:n.516C>A | ||
| ENST00000634990.1:c.7335C>A | ENSP00000488964.1:p.Arg2445= | |
| NM_004104.4:c.7341C>A | NP_004095.4:p.Arg2447= | |
| XM_011523538.1:c.7341C>A | XP_011521840.1:p.Arg2447= | |
| XM_011523538.2:c.7341C>A | XP_011521840.1:p.Arg2447= | |
| NM_004104.5:c.7341C>A MANE Select | NP_004095.4:p.Arg2447= |