Linked Data
ClinVar Variation Id:
5173
ClinVar RCV Id:
RCV000005481
dbSNP Id:
rs104894488
PubMed:
PMID:16407510
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73324216G>T , CM000677.2:g.73324216G>T | GRCh38 |
| NC_000015.9:g.73616557G>T , CM000677.1:g.73616557G>T | GRCh37 |
| NC_000015.8:g.71403610G>T | NCBI36 |
| NG_009063.1:g.50049C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.2016C>A MANE Select | ENSP00000261917.3:p.Ser672Arg | |
| ENST00000261917.3:c.2016C>A | ENSP00000261917.3:p.Ser672Arg | |
| NM_005477.2:c.2016C>A | NP_005468.1:p.Ser672Arg | |
| XM_011521148.1:c.798C>A | XP_011519450.1:p.Ser266Arg | |
| XM_011521148.2:c.798C>A | XP_011519450.1:p.Ser266Arg | |
| NM_005477.3:c.2016C>A MANE Select | NP_005468.1:p.Ser672Arg |