Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147571106T>A , CM000669.2:g.147571106T>A | GRCh38 |
| NC_000007.13:g.147268198T>A , CM000669.1:g.147268198T>A | GRCh37 |
| NC_000007.12:g.146899131T>A | NCBI36 |
| NG_007092.2:g.1459746T>A | |
| NG_007092.3:g.1460106T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1897+8849T>A MANE Select | ENSP00000354778.3:n.1897+8849T>A | |
| ENST00000636870.1:n.1759+8849T>A | ||
| ENST00000637825.1:n.1380+8849T>A | ||
| ENST00000638117.1:n.1800+8849T>A | ||
| ENST00000361727.7:c.1897+8849T>A | ENSP00000354778.3:n.1897+8849T>A | |
| NM_014141.5:c.1897+8849T>A | NP_054860.1:n.1897+8849T>A | |
| XM_006715919.1:c.385+8849T>A | XP_006715982.1:n.385+8849T>A | |
| XM_017011950.2:c.1897+8849T>A | XP_016867439.1:n.1897+8849T>A | |
| NM_014141.6:c.1897+8849T>A MANE Select | NP_054860.1:n.1897+8849T>A |