Linked Data
dbSNP Id:
rs762653317
ExAC:
17:56350957 C / T
gnomAD v2:
17-56350957-C-T
gnomAD v3:
17-58273596-C-T
gnomAD v4:
17-58273596-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273596C>T , CM000679.2:g.58273596C>T | GRCh38 |
| NC_000017.10:g.56350957C>T , CM000679.1:g.56350957C>T | GRCh37 |
| NC_000017.9:g.53705956C>T | NCBI36 |
| NG_009629.1:g.12340G>A , LRG_84:g.12340G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.772G>A | ||
| ENST00000699291.1:c.564G>A | ENSP00000514272.1:p.Pro188= | |
| ENST00000699292.1:n.479G>A | ||
| ENST00000225275.4:c.1439G>A MANE Select | ENSP00000225275.3:p.Arg480His | |
| ENST00000225275.3:c.1439G>A | ENSP00000225275.3:p.Arg480His | |
| NM_000250.1:c.1439G>A , LRG_84t1:c.1439G>A | NP_000241.1:p.Arg480His | |
| XM_011524821.1:c.1625G>A | XP_011523123.1:p.Arg542His | |
| XM_011524822.1:c.1154G>A | XP_011523124.1:p.Arg385His | |
| XM_011524823.1:c.1464G>A | XP_011523125.1:p.Pro488= | |
| NM_000250.2:c.1439G>A MANE Select | NP_000241.1:p.Arg480His |