Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674661G>T , CM000671.2:g.136674661G>T | GRCh38 |
| NC_000009.11:g.139569113G>T , CM000671.1:g.139569113G>T | GRCh37 |
| NC_000009.10:g.138688934G>T | NCBI36 |
| NG_008090.1:g.17799C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371696.7:c.661+74C>A MANE Select | ENSP00000360761.2:n.661+74C>A | |
| ENST00000371694.7:c.565+74C>A | ENSP00000360759.3:n.565+74C>A | |
| ENST00000371696.6:c.661+74C>A | ENSP00000360761.2:n.661+74C>A | |
| ENST00000472820.1:n.589+74C>A | ||
| ENST00000538402.1:c.661+74C>A | ENSP00000438919.1:n.661+74C>A | |
| NM_001012727.1:c.565+74C>A | NP_001012745.1:n.565+74C>A | |
| NM_006412.3:c.661+74C>A | NP_006403.2:n.661+74C>A | |
| NM_006412.4:c.661+74C>A MANE Select | NP_006403.2:n.661+74C>A | |
| NM_001012727.2:c.565+74C>A | NP_001012745.1:n.565+74C>A |