Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49633343C>A , CM000676.2:g.49633343C>A | GRCh38 |
| NC_000014.8:g.50100061C>A , CM000676.1:g.50100061C>A | GRCh37 |
| NC_000014.7:g.49169811C>A | NCBI36 |
| NG_013070.1:g.6888G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018139.3:c.1807G>T MANE Select | NP_060609.2:p.Glu603Ter |
| ENST00000298292.13:c.1807G>T MANE Select | ENSP00000298292.8:p.Glu603Ter |
| NM_001083908.1:c.1807G>T | NP_001077377.1:p.Glu603Ter |
| NM_001083908.2:c.1807G>T | NP_001077377.1:p.Glu603Ter |
| NM_001378453.1:c.-205+140G>T | NP_001365382.1:n.-205+140G>T |
| NM_018139.2:c.1807G>T | NP_060609.2:p.Glu603Ter |
| ENST00000298292.12:c.1807G>T | ENSP00000298292.8:p.Glu603Ter |
| ENST00000406043.3:c.1807G>T | ENSP00000384862.3:p.Glu603Ter |