Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96242495G>A , CM000676.2:g.96242495G>A | GRCh38 |
| NC_000014.8:g.96708832G>A , CM000676.1:g.96708832G>A | GRCh37 |
| NC_000014.7:g.95778585G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379692.1:c.*991G>A MANE Select | NP_001366621.1:n.*991G>A |
| ENST00000554311.2:c.*991G>A MANE Select | ENSP00000450482.1:n.*991G>A |
| NM_000623.3:c.*991G>A | NP_000614.1:n.*991G>A |
| NM_000623.4:c.*991G>A | NP_000614.1:n.*991G>A |
| ENST00000542454.2:c.*991G>A | ENSP00000439459.2:n.*991G>A |
| ENST00000553811.1:c.74+5314G>A | ENSP00000450984.1:n.74+5314G>A |
| ENST00000554311.1:c.*991G>A | ENSP00000450482.1:n.*991G>A |
| ENST00000555847.1:n.255+100G>A |