Linked Data
ClinVar Variation Id:
225654
ClinVar RCV Id:
RCV000210946
dbSNP Id:
rs121912541
PubMed:
PMID:23948678
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093573G>C , CM000664.2:g.176093573G>C | GRCh38 |
| NC_000002.11:g.176958301G>C , CM000664.1:g.176958301G>C | GRCh37 |
| NC_000002.10:g.176666547G>C | NCBI36 |
| NG_008137.1:g.5770G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392539.4:c.683G>C MANE Select | ENSP00000376322.3:p.Gly228Ala | |
| ENST00000392539.3:c.683G>C | ENSP00000376322.3:p.Gly228Ala | |
| NM_000523.3:c.683G>C | NP_000514.2:p.Gly228Ala | |
| XM_011511068.1:c.725-907G>C | XP_011509370.1:n.725-907G>C | |
| XM_011511068.2:c.725-907G>C | XP_011509370.1:n.725-907G>C | |
| NM_000523.4:c.683G>C MANE Select | NP_000514.2:p.Gly228Ala |