Linked Data
ClinVar Variation Id:
2681872
ClinVar RCV Id:
RCV003477164
dbSNP Id:
rs1231966626
gnomAD v3:
2-21001884-A-C
gnomAD v4:
2-21001884-A-C
COSMIC:
COSM1015882
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21001884A>C , CM000664.2:g.21001884A>C | GRCh38 |
| NC_000002.11:g.21224756A>C , CM000664.1:g.21224756A>C | GRCh37 |
| NC_000002.10:g.21078261A>C | NCBI36 |
| NG_011793.1:g.47190T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13538T>G MANE Select | ENSP00000233242.1:p.Phe4513Cys | |
| ENST00000616098.4:c.13536T>G | ENSP00000477990.1:n.13536T>G | |
| NM_000384.2:c.13538T>G | NP_000375.2:p.Phe4513Cys | |
| XM_011532809.1:c.5870-2611T>G | XP_011531111.1:n.5870-2611T>G | |
| NM_000384.3:c.13538T>G MANE Select | NP_000375.3:p.Phe4513Cys |