Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595445C>T , CM000681.2:g.3595445C>T | GRCh38 |
| NC_000019.9:g.3595443C>T , CM000681.1:g.3595443C>T | GRCh37 |
| NC_000019.8:g.3546443C>T | NCBI36 |
| NG_013363.1:g.16389G>A , LRG_578:g.16389G>A | |
| NG_031943.1:g.14875C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.*243G>A MANE Select | ENSP00000364336.4:n.*243G>A | |
| ENST00000375190.8:c.*243G>A | ENSP00000364336.3:n.*243G>A | |
| ENST00000411851.3:c.983+292G>A | ENSP00000393333.2:n.983+292G>A | |
| ENST00000589966.1:c.*106G>A | ENSP00000468145.1:n.*106G>A | |
| NM_001060.5:c.*243G>A , LRG_578t1:c.*243G>A | NP_001051.1:n.*243G>A | |
| NM_201636.2:c.983+292G>A | NP_963998.2:n.983+292G>A | |
| NM_001060.6:c.*243G>A MANE Select | NP_001051.1:n.*243G>A | |
| NM_201636.3:c.983+292G>A | NP_963998.2:n.983+292G>A |