Linked Data
dbSNP Id:
rs1311018702
gnomAD v2:
19-10226219-G-A
gnomAD v3:
19-10115543-G-A
gnomAD v4:
19-10115543-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115543G>A , CM000681.2:g.10115543G>A | GRCh38 |
| NC_000019.9:g.10226219G>A , CM000681.1:g.10226219G>A | GRCh37 |
| NC_000019.8:g.10087219G>A | NCBI36 |
| NG_047007.1:g.9023G>A | |
| NG_051197.1:g.9382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.883C>T MANE Select | ENSP00000253108.3:p.Arg295Cys | |
| ENST00000253108.8:c.883C>T | ENSP00000253108.3:p.Arg295Cys | |
| ENST00000589454.5:c.859C>T | ENSP00000466860.1:p.Arg287Cys | |
| ENST00000590158.1:n.902C>T | ||
| ENST00000593054.5:c.277C>T | ENSP00000467187.1:p.Arg93Cys | |
| NM_003755.3:c.883C>T | NP_003746.2:p.Arg295Cys | |
| NM_003755.4:c.883C>T | NP_003746.2:p.Arg295Cys | |
| NM_003755.5:c.883C>T MANE Select | NP_003746.2:p.Arg295Cys |