Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169560543G>T , CM000663.2:g.169560543G>T | GRCh38 |
| NC_000001.10:g.169529781G>T , CM000663.1:g.169529781G>T | GRCh37 |
| NC_000001.9:g.167796405G>T | NCBI36 |
| NG_011806.1:g.30989C>A , LRG_553:g.30989C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.586+11C>A MANE Select | NP_000121.2:n.586+11C>A |
| ENST00000367797.9:c.586+11C>A MANE Select | ENSP00000356771.3:n.586+11C>A |
| NM_000130.4:c.586+11C>A , LRG_553t1:c.586+11C>A | NP_000121.2:n.586+11C>A |
| ENST00000367796.3:c.586+11C>A | ENSP00000356770.3:n.586+11C>A |
| ENST00000367797.7:c.586+11C>A | ENSP00000356771.3:n.586+11C>A |
| XM_017000660.2:c.175+11C>A | XP_016856149.1:n.175+11C>A |