Linked Data
dbSNP Id:
rs753067688
ExAC:
X:30322763 A / C
gnomAD v2:
X-30322763-A-C
gnomAD v3:
X-30304646-A-C
gnomAD v4:
X-30304646-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304646A>C , CM000685.2:g.30304646A>C | GRCh38 |
| NC_000023.10:g.30322763A>C , CM000685.1:g.30322763A>C | GRCh37 |
| NC_000023.9:g.30232684A>C | NCBI36 |
| NG_009814.1:g.9733T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1346T>G MANE Select | ENSP00000368253.4:p.Phe449Cys | |
| ENST00000378970.4:c.1346T>G | ENSP00000368253.4:p.Phe449Cys | |
| NM_000475.4:c.1346T>G | NP_000466.2:p.Phe449Cys | |
| NM_000475.5:c.1346T>G MANE Select | NP_000466.2:p.Phe449Cys |