Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111100751C>A , CM000667.2:g.111100751C>A | GRCh38 |
| NC_000005.9:g.110436450C>A , CM000667.1:g.110436450C>A | GRCh37 |
| NC_000005.8:g.110464349C>A | NCBI36 |
| NG_008979.1:g.13581C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139281.3:c.542+30C>A MANE Select | NP_644810.2:n.542+30C>A |
| ENST00000513710.4:c.542+30C>A MANE Select | ENSP00000424628.3:n.542+30C>A |
| NM_139281.2:c.710+30C>A | NP_644810.1:n.710+30C>A |
| ENST00000504122.2:n.424+30C>A | |
| ENST00000505303.5:n.678+30C>A | |
| ENST00000506538.6:c.710+30C>A | ENSP00000423067.2:n.710+30C>A |
| ENST00000513710.3:c.542+30C>A | ENSP00000424628.3:n.542+30C>A |
| ENST00000612402.4:c.710+30C>A | ENSP00000479950.1:n.710+30C>A |
| XM_011543163.1:c.710+30C>A | XP_011541465.1:n.710+30C>A |