Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169552741G>A , CM000663.2:g.169552741G>A | GRCh38 |
| NC_000001.10:g.169521979G>A , CM000663.1:g.169521979G>A | GRCh37 |
| NC_000001.9:g.167788603G>A | NCBI36 |
| NG_011806.1:g.38791C>T , LRG_553:g.38791C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1119-7C>T MANE Select | ENSP00000356771.3:n.1119-7C>T | |
| ENST00000367796.3:c.1119-7C>T | ENSP00000356770.3:n.1119-7C>T | |
| ENST00000367797.7:c.1119-7C>T | ENSP00000356771.3:n.1119-7C>T | |
| NM_000130.4:c.1119-7C>T , LRG_553t1:c.1119-7C>T | NP_000121.2:n.1119-7C>T | |
| XM_017000660.2:c.708-7C>T | XP_016856149.1:n.708-7C>T | |
| NM_000130.5:c.1119-7C>T MANE Select | NP_000121.2:n.1119-7C>T |