Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981232C>T , CM000667.2:g.149981232C>T | GRCh38 |
| NC_000005.9:g.149360795C>T , CM000667.1:g.149360795C>T | GRCh37 |
| NC_000005.8:g.149340988C>T | NCBI36 |
| NG_007147.2:g.22350C>T , LRG_684:g.22350C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.1639C>T MANE Select | NP_000103.2:p.Gln547Ter |
| ENST00000286298.5:c.1639C>T MANE Select | ENSP00000286298.4:p.Gln547Ter |
| NM_000112.3:c.1639C>T , LRG_684t1:c.1639C>T | NP_000103.2:p.Gln547Ter |
| ENST00000286298.4:c.1639C>T | ENSP00000286298.4:p.Gln547Ter |
| ENST00000503336.1:c.372+2881C>T | ENSP00000426053.1:n.372+2881C>T |
| XM_017009191.2:c.1639C>T | XP_016864680.1:p.Gln547Ter |