Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111119125G>A , CM000667.2:g.111119125G>A | GRCh38 |
| NC_000005.9:g.110454823G>A , CM000667.1:g.110454823G>A | GRCh37 |
| NC_000005.8:g.110482722G>A | NCBI36 |
| NG_008979.1:g.31954G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513710.4:c.1904+5G>A MANE Select | ENSP00000424628.3:n.1904+5G>A | |
| ENST00000506538.6:c.2072+5G>A | ENSP00000423067.2:n.2072+5G>A | |
| ENST00000513710.3:c.1904+5G>A | ENSP00000424628.3:n.1904+5G>A | |
| ENST00000612402.4:c.2072+5G>A | ENSP00000479950.1:n.2072+5G>A | |
| NM_139281.2:c.2072+5G>A | NP_644810.1:n.2072+5G>A | |
| XM_011543163.1:c.2072+5G>A | XP_011541465.1:n.2072+5G>A | |
| NM_139281.3:c.1904+5G>A MANE Select | NP_644810.2:n.1904+5G>A |