Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147571152G>C , CM000669.2:g.147571152G>C | GRCh38 |
| NC_000007.13:g.147268244G>C , CM000669.1:g.147268244G>C | GRCh37 |
| NC_000007.12:g.146899177G>C | NCBI36 |
| NG_007092.2:g.1459792G>C | |
| NG_007092.3:g.1460152G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1897+8895G>C MANE Select | ENSP00000354778.3:n.1897+8895G>C | |
| ENST00000636870.1:n.1759+8895G>C | ||
| ENST00000637825.1:n.1380+8895G>C | ||
| ENST00000638117.1:n.1800+8895G>C | ||
| ENST00000361727.7:c.1897+8895G>C | ENSP00000354778.3:n.1897+8895G>C | |
| NM_014141.5:c.1897+8895G>C | NP_054860.1:n.1897+8895G>C | |
| XM_006715919.1:c.385+8895G>C | XP_006715982.1:n.385+8895G>C | |
| XM_017011950.2:c.1897+8895G>C | XP_016867439.1:n.1897+8895G>C | |
| NM_014141.6:c.1897+8895G>C MANE Select | NP_054860.1:n.1897+8895G>C |