Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541748C>T , CM000671.2:g.98541748C>T | GRCh38 |
| NC_000009.11:g.101304030C>T , CM000671.1:g.101304030C>T | GRCh37 |
| NC_000009.10:g.100343851C>T | NCBI36 |
| NG_016426.1:g.172450G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.630+125G>A MANE Select | ENSP00000259455.2:n.630+125G>A | |
| ENST00000637410.1:n.408+125G>A | ||
| ENST00000259455.3:c.630+125G>A | ENSP00000259455.2:n.630+125G>A | |
| ENST00000477471.1:n.417+125G>A | ||
| ENST00000634227.1:n.404+125G>A | ||
| NM_005458.7:c.630+125G>A | NP_005449.5:n.630+125G>A | |
| XM_017015331.2:c.336+125G>A | XP_016870820.1:n.336+125G>A | |
| NM_005458.8:c.630+125G>A MANE Select | NP_005449.5:n.630+125G>A |