Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96241886T>A , CM000676.2:g.96241886T>A | GRCh38 |
| NC_000014.8:g.96708223T>A , CM000676.1:g.96708223T>A | GRCh37 |
| NC_000014.7:g.95777976T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379692.1:c.*382T>A MANE Select | NP_001366621.1:n.*382T>A |
| ENST00000554311.2:c.*382T>A MANE Select | ENSP00000450482.1:n.*382T>A |
| NM_000623.3:c.*382T>A | NP_000614.1:n.*382T>A |
| NM_000623.4:c.*382T>A | NP_000614.1:n.*382T>A |
| ENST00000542454.2:c.*382T>A | ENSP00000439459.2:n.*382T>A |
| ENST00000553811.1:c.74+4705T>A | ENSP00000450984.1:n.74+4705T>A |
| ENST00000554311.1:c.*382T>A | ENSP00000450482.1:n.*382T>A |