Linked Data
ClinVar Variation Id:
31917
ClinVar RCV Id:
RCV000024605
dbSNP Id:
rs387907200
gnomAD v4:
2-72887736-G-T
PubMed:
PMID:21431957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72887736G>T , CM000664.2:g.72887736G>T | GRCh38 |
| NC_000002.11:g.73114865G>T , CM000664.1:g.73114865G>T | GRCh37 |
| NC_000002.10:g.72968373G>T | NCBI36 |
| NG_008234.1:g.5354G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.304G>T MANE Select | ENSP00000234454.5:p.Gly102Cys | |
| ENST00000234454.5:c.304G>T | ENSP00000234454.5:p.Gly102Cys | |
| ENST00000498749.1:n.355G>T | ||
| NM_003124.4:c.304G>T | NP_003115.1:p.Gly102Cys | |
| NM_003124.5:c.304G>T MANE Select | NP_003115.1:p.Gly102Cys |