Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147571535T>C , CM000669.2:g.147571535T>C | GRCh38 |
| NC_000007.13:g.147268627T>C , CM000669.1:g.147268627T>C | GRCh37 |
| NC_000007.12:g.146899560T>C | NCBI36 |
| NG_007092.2:g.1460175T>C | |
| NG_007092.3:g.1460535T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1897+9278T>C MANE Select | ENSP00000354778.3:n.1897+9278T>C | |
| ENST00000636870.1:n.1759+9278T>C | ||
| ENST00000637825.1:n.1380+9278T>C | ||
| ENST00000638117.1:n.1800+9278T>C | ||
| ENST00000361727.7:c.1897+9278T>C | ENSP00000354778.3:n.1897+9278T>C | |
| NM_014141.5:c.1897+9278T>C | NP_054860.1:n.1897+9278T>C | |
| XM_006715919.1:c.385+9278T>C | XP_006715982.1:n.385+9278T>C | |
| XM_017011950.2:c.1897+9278T>C | XP_016867439.1:n.1897+9278T>C | |
| NM_014141.6:c.1897+9278T>C MANE Select | NP_054860.1:n.1897+9278T>C |