Linked Data
dbSNP Id:
rs782551339
ExAC:
X:49957656 A / T
gnomAD v2:
X-49957656-A-T
gnomAD v4:
X-50193005-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50193005A>T , CM000685.2:g.50193005A>T | GRCh38 |
| NC_000023.10:g.49957656A>T , CM000685.1:g.49957656A>T | GRCh37 |
| NC_000023.9:g.49844396A>T | NCBI36 |
| NG_012552.1:g.13009T>A | |
| NG_012552.2:g.13009T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.1708T>A MANE Select | ENSP00000351327.2:p.Cys570Ser | |
| ENST00000358526.6:c.1708T>A | ENSP00000351327.2:p.Cys570Ser | |
| ENST00000376064.7:c.1681T>A | ENSP00000365232.3:p.Cys561Ser | |
| ENST00000448865.5:c.559T>A | ENSP00000402403.1:p.Cys187Ser | |
| ENST00000481402.5:n.1820T>A | ||
| NM_003886.2:c.1708T>A | NP_003877.2:p.Cys570Ser | |
| NM_139289.1:c.1681T>A | NP_647450.1:p.Cys561Ser | |
| NM_003886.3:c.1708T>A MANE Select | NP_003877.2:p.Cys570Ser | |
| NM_139289.2:c.1681T>A | NP_647450.1:p.Cys561Ser |