Linked Data
dbSNP Id:
rs113994118
gnomAD v3:
12-4912619-T-G
gnomAD v4:
12-4912619-T-G
PubMed:
PMID:20301785
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912619T>G , CM000674.2:g.4912619T>G | GRCh38 |
| NC_000012.11:g.5021785T>G , CM000674.1:g.5021785T>G | GRCh37 |
| NC_000012.10:g.4892046T>G | NCBI36 |
| NG_011815.1:g.7713T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382545.5:c.1241T>G MANE Select | ENSP00000371985.3:p.Phe414Cys | |
| ENST00000543874.3:n.105+2147T>G | ||
| ENST00000639306.1:c.1079T>G | ENSP00000492506.1:p.Phe360Cys | |
| ENST00000639680.1:c.76+353T>G | ||
| ENST00000382545.3:c.1241T>G | ENSP00000371985.3:p.Phe414Cys | |
| ENST00000541095.1:n.105+2147T>G | ||
| ENST00000543874.2:n.96+2147T>G | ||
| NM_000217.2:c.1241T>G | NP_000208.2:p.Phe414Cys | |
| NM_000217.3:c.1241T>G MANE Select | NP_000208.2:p.Phe414Cys |