Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.122144444T>A , CM000671.2:g.122144444T>A | GRCh38 |
| NC_000009.11:g.124906723T>A , CM000671.1:g.124906723T>A | GRCh37 |
| NC_000009.10:g.123946544T>A | NCBI36 |
| NG_042279.1:g.20376A>T | |
| NG_042279.2:g.20376A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014222.3:c.382-66A>T MANE Select | NP_055037.1:n.382-66A>T |
| ENST00000373768.4:c.382-66A>T MANE Select | ENSP00000362873.3:n.382-66A>T |
| NM_001318195.1:c.381+3668A>T | NP_001305124.1:n.381+3668A>T |
| NM_001318195.2:c.381+3668A>T | NP_001305124.1:n.381+3668A>T |
| NM_014222.2:c.382-66A>T | NP_055037.1:n.382-66A>T |
| ENST00000373768.3:c.382-66A>T | ENSP00000362873.3:n.382-66A>T |
| XM_005251998.2:c.381+3668A>T | XP_005252055.1:n.381+3668A>T |