Linked Data
dbSNP Id:
rs770819788
ExAC:
1:24175247 A / C
gnomAD v2:
1-24175247-A-C
gnomAD v4:
1-23848757-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848757A>C , CM000663.2:g.23848757A>C | GRCh38 |
| NC_000001.10:g.24175247A>C , CM000663.1:g.24175247A>C | GRCh37 |
| NC_000001.9:g.24047834A>C | NCBI36 |
| NG_013346.1:g.24613T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1052T>G MANE Select | ENSP00000363603.3:p.Phe351Cys | |
| ENST00000374479.3:c.1052T>G | ENSP00000363603.3:p.Phe351Cys | |
| NM_000147.4:c.1052T>G | NP_000138.2:p.Phe351Cys | |
| XM_005245821.1:c.677T>G | XP_005245878.1:p.Phe226Cys | |
| XM_011541167.1:c.419T>G | XP_011539469.1:p.Phe140Cys | |
| XM_005245821.3:c.677T>G | XP_005245878.1:p.Phe226Cys | |
| XM_011541167.3:c.419T>G | XP_011539469.1:p.Phe140Cys | |
| XM_017000905.2:c.749T>G | XP_016856394.1:p.Phe250Cys | |
| NM_000147.5:c.1052T>G MANE Select | NP_000138.2:p.Phe351Cys | |
| NR_174379.1:n.1230T>G | ||
| NR_174380.1:n.1279T>G | ||
| NR_174381.1:n.1118T>G | ||
| NR_174382.1:n.1515T>G |