Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981370G>T , CM000667.2:g.149981370G>T | GRCh38 |
| NC_000005.9:g.149360933G>T , CM000667.1:g.149360933G>T | GRCh37 |
| NC_000005.8:g.149341126G>T | NCBI36 |
| NG_007147.2:g.22488G>T , LRG_684:g.22488G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.1777G>T MANE Select | NP_000103.2:p.Glu593Ter |
| ENST00000286298.5:c.1777G>T MANE Select | ENSP00000286298.4:p.Glu593Ter |
| NM_000112.3:c.1777G>T , LRG_684t1:c.1777G>T | NP_000103.2:p.Glu593Ter |
| ENST00000286298.4:c.1777G>T | ENSP00000286298.4:p.Glu593Ter |
| ENST00000503336.1:c.372+3019G>T | ENSP00000426053.1:n.372+3019G>T |
| XM_017009191.2:c.1777G>T | XP_016864680.1:p.Glu593Ter |