Linked Data
dbSNP Id:
rs1314250126
gnomAD v2:
17-39780584-A-T
gnomAD v3:
17-41624332-A-T
gnomAD v4:
17-41624332-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624332A>T , CM000679.2:g.41624332A>T | GRCh38 |
| NC_000017.10:g.39780584A>T , CM000679.1:g.39780584A>T | GRCh37 |
| NC_000017.9:g.37034110A>T | NCBI36 |
| NG_008625.1:g.5299T>A | |
| NG_009090.2:g.167381T>A , LRG_401:g.167381T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.178T>A MANE Select | ENSP00000308452.8:p.Cys60Ser | |
| ENST00000311208.12:c.178T>A | ENSP00000308452.8:p.Cys60Ser | |
| ENST00000463128.5:c.-312-126T>A | ENSP00000468672.1:n.-312-126T>A | |
| ENST00000491673.1:n.244T>A | ||
| ENST00000540235.5:c.-28T>A | ENSP00000441751.2:n.-28T>A | |
| ENST00000577817.3:c.133T>A | ENSP00000467418.1:p.Cys45Ser | |
| NM_000422.2:c.178T>A | NP_000413.1:p.Cys60Ser | |
| NM_000422.3:c.178T>A MANE Select | NP_000413.1:p.Cys60Ser |