Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100045744G>T , CM000672.2:g.100045744G>T | GRCh38 |
| NC_000010.10:g.101805501G>T , CM000672.1:g.101805501G>T | GRCh37 |
| NC_000010.9:g.101795491G>T | NCBI36 |
| NG_012060.1:g.41142C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370418.8:c.1230+3014C>A MANE Select | ENSP00000359446.3:n.1230+3014C>A | |
| ENST00000370418.7:c.1230+3014C>A | ENSP00000359446.3:n.1230+3014C>A | |
| NM_001308.2:c.1230+3014C>A | NP_001299.1:n.1230+3014C>A | |
| XM_011539299.1:c.1272+3014C>A | XP_011537601.1:n.1272+3014C>A | |
| NM_001308.3:c.1230+3014C>A MANE Select | NP_001299.1:n.1230+3014C>A |