Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49628113C>A , CM000676.2:g.49628113C>A | GRCh38 |
| NC_000014.8:g.50094831C>A , CM000676.1:g.50094831C>A | GRCh37 |
| NC_000014.7:g.49164581C>A | NCBI36 |
| NG_013070.1:g.12118G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018139.3:c.1906G>T MANE Select | NP_060609.2:p.Glu636Ter |
| ENST00000298292.13:c.1906G>T MANE Select | ENSP00000298292.8:p.Glu636Ter |
| NM_001083908.1:c.1864-2065G>T | NP_001077377.1:n.1864-2065G>T |
| NM_001083908.2:c.1864-2065G>T | NP_001077377.1:n.1864-2065G>T |
| NM_001378453.1:c.-204-2065G>T | NP_001365382.1:n.-204-2065G>T |
| NM_018139.2:c.1906G>T | NP_060609.2:p.Glu636Ter |
| ENST00000298292.12:c.1906G>T | ENSP00000298292.8:p.Glu636Ter |
| ENST00000406043.3:c.1864-2065G>T | ENSP00000384862.3:n.1864-2065G>T |