Linked Data
dbSNP Id:
rs983017568
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47881840G>A , CM000681.2:g.47881840G>A | GRCh38 |
| NC_000019.9:g.48385097G>A , CM000681.1:g.48385097G>A | GRCh37 |
| NC_000019.8:g.53076909G>A | NCBI36 |
| NG_016745.1:g.9558C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222002.4:c.472+244C>T MANE Select | ENSP00000222002.2:n.472+244C>T | |
| ENST00000222002.3:c.472+244C>T | ENSP00000222002.2:n.472+244C>T | |
| NM_003167.3:c.472+244C>T | NP_003158.2:n.472+244C>T | |
| NM_003167.4:c.472+244C>T MANE Select | NP_003158.2:n.472+244C>T |