dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51186670C>A , CM000680.2:g.51186670C>A | GRCh38 |
| NC_000018.9:g.48713040C>A , CM000680.1:g.48713040C>A | GRCh37 |
| NC_000018.8:g.46967038C>A | NCBI36 |
| NG_015801.1:g.16012G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406189.4:c.755-9094G>T MANE Select | ENSP00000385610.3:n.755-9094G>T | |
| ENST00000591040.2:c.-107-9094G>T | ENSP00000502049.1:n.-107-9094G>T | |
| ENST00000406189.3:c.755-9094G>T | ENSP00000385610.3:n.755-9094G>T | |
| ENST00000591040.1:n.44-9094G>T | ||
| ENST00000616921.1:c.245-9094G>T | ENSP00000482566.1:n.245-9094G>T | |
| NM_016626.4:c.755-9094G>T | NP_057710.3:n.755-9094G>T | |
| NM_016626.5:c.755-9094G>T MANE Select | NP_057710.3:n.755-9094G>T |