Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595567C>A , CM000681.2:g.3595567C>A | GRCh38 |
| NC_000019.9:g.3595565C>A , CM000681.1:g.3595565C>A | GRCh37 |
| NC_000019.8:g.3546565C>A | NCBI36 |
| NG_013363.1:g.16267G>T , LRG_578:g.16267G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.*121G>T MANE Select | ENSP00000364336.4:n.*121G>T | |
| ENST00000375190.8:c.*121G>T | ENSP00000364336.3:n.*121G>T | |
| ENST00000411851.3:c.983+170G>T | ENSP00000393333.2:n.983+170G>T | |
| ENST00000589966.1:c.764G>T | ENSP00000468145.1:p.Ser255Ile | |
| NM_001060.5:c.*121G>T , LRG_578t1:c.*121G>T | NP_001051.1:n.*121G>T | |
| NM_201636.2:c.983+170G>T | NP_963998.2:n.983+170G>T | |
| NM_001060.6:c.*121G>T MANE Select | NP_001051.1:n.*121G>T | |
| NM_201636.3:c.983+170G>T | NP_963998.2:n.983+170G>T |