Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51192070C>T , CM000680.2:g.51192070C>T | GRCh38 |
| NC_000018.9:g.48718440C>T , CM000680.1:g.48718440C>T | GRCh37 |
| NC_000018.8:g.46972438C>T | NCBI36 |
| NG_015801.1:g.10612G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406189.4:c.754+4497G>A MANE Select | ENSP00000385610.3:n.754+4497G>A | |
| ENST00000591040.2:c.-107-14494G>A | ENSP00000502049.1:n.-107-14494G>A | |
| ENST00000406189.3:c.754+4497G>A | ENSP00000385610.3:n.754+4497G>A | |
| ENST00000591040.1:n.44-14494G>A | ||
| ENST00000616921.1:c.244+4497G>A | ENSP00000482566.1:n.244+4497G>A | |
| NM_016626.4:c.754+4497G>A | NP_057710.3:n.754+4497G>A | |
| NM_016626.5:c.754+4497G>A MANE Select | NP_057710.3:n.754+4497G>A |