Linked Data
ClinVar Variation Id:
13258
ClinVar RCV Id:
RCV000014168
dbSNP Id:
rs137853199
gnomAD v4:
1-16125304-C-A
PubMed:
PMID:19005574
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16125304C>A , CM000663.2:g.16125304C>A | GRCh38 |
| NC_000001.10:g.16451799C>A , CM000663.1:g.16451799C>A | GRCh37 |
| NC_000001.9:g.16324386C>A | NCBI36 |
| NG_021396.1:g.35784G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358432.8:c.2842G>T MANE Select | ENSP00000351209.5:p.Gly948Trp | |
| ENST00000358432.7:c.2842G>T | ENSP00000351209.5:p.Gly948Trp | |
| NM_004431.3:c.2842G>T | NP_004422.2:p.Gly948Trp | |
| NM_001329090.1:c.2680G>T | NP_001316019.1:p.Gly894Trp | |
| NM_004431.4:c.2842G>T | NP_004422.2:p.Gly948Trp | |
| NM_004431.5:c.2842G>T MANE Select | NP_004422.2:p.Gly948Trp | |
| NM_001329090.2:c.2680G>T | NP_001316019.1:p.Gly894Trp |