Linked Data
dbSNP Id:
rs759246570
ExAC:
17:4534924 T / A
gnomAD v2:
17-4534924-T-A
gnomAD v4:
17-4631629-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631629T>A , CM000679.2:g.4631629T>A | GRCh38 |
| NC_000017.10:g.4534924T>A , CM000679.1:g.4534924T>A | GRCh37 |
| NC_000017.9:g.4481673T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.1960A>T MANE Select | ENSP00000293761.3:p.Ser654Cys | |
| ENST00000570836.6:c.1960A>T | ENSP00000458832.1:p.Ser654Cys | |
| ENST00000293761.7:c.1960A>T | ENSP00000293761.3:p.Ser654Cys | |
| ENST00000570836.5:c.1960A>T | ENSP00000458832.1:p.Ser654Cys | |
| ENST00000574640.1:c.1843A>T | ENSP00000460483.1:p.Ser615Cys | |
| NM_001140.3:c.1960A>T | NP_001131.3:p.Ser654Cys | |
| NM_001140.4:c.1960A>T | NP_001131.3:p.Ser654Cys | |
| NM_001140.5:c.1960A>T MANE Select | NP_001131.3:p.Ser654Cys |