Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147571168G>A , CM000669.2:g.147571168G>A | GRCh38 |
| NC_000007.13:g.147268260G>A , CM000669.1:g.147268260G>A | GRCh37 |
| NC_000007.12:g.146899193G>A | NCBI36 |
| NG_007092.2:g.1459808G>A | |
| NG_007092.3:g.1460168G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1897+8911G>A MANE Select | ENSP00000354778.3:n.1897+8911G>A | |
| ENST00000636870.1:n.1759+8911G>A | ||
| ENST00000637825.1:n.1380+8911G>A | ||
| ENST00000638117.1:n.1800+8911G>A | ||
| ENST00000361727.7:c.1897+8911G>A | ENSP00000354778.3:n.1897+8911G>A | |
| NM_014141.5:c.1897+8911G>A | NP_054860.1:n.1897+8911G>A | |
| XM_006715919.1:c.385+8911G>A | XP_006715982.1:n.385+8911G>A | |
| XM_017011950.2:c.1897+8911G>A | XP_016867439.1:n.1897+8911G>A | |
| NM_014141.6:c.1897+8911G>A MANE Select | NP_054860.1:n.1897+8911G>A |