Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169514238C>T , CM000663.2:g.169514238C>T | GRCh38 |
| NC_000001.10:g.169483476C>T , CM000663.1:g.169483476C>T | GRCh37 |
| NC_000001.9:g.167750100C>T | NCBI36 |
| NG_011806.1:g.77294G>A , LRG_553:g.77294G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.*75G>A MANE Select | ENSP00000356771.3:n.*75G>A | |
| ENST00000367796.3:c.*75G>A | ENSP00000356770.3:n.*75G>A | |
| ENST00000367797.7:c.*75G>A | ENSP00000356771.3:n.*75G>A | |
| ENST00000495481.1:n.524G>A | ||
| NM_000130.4:c.*75G>A , LRG_553t1:c.*75G>A | NP_000121.2:n.*75G>A | |
| XM_017000660.2:c.*75G>A | XP_016856149.1:n.*75G>A | |
| NM_000130.5:c.*75G>A MANE Select | NP_000121.2:n.*75G>A |