Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150977883G>A , CM000669.2:g.150977883G>A | GRCh38 |
| NC_000007.13:g.150674971G>A , CM000669.1:g.150674971G>A | GRCh37 |
| NC_000007.12:g.150305904G>A | NCBI36 |
| NG_008916.1:g.5044C>T , LRG_288:g.5044C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000238.4:c.31C>T MANE Select | NP_000229.1:p.Gln11Ter |
| ENST00000262186.10:c.31C>T MANE Select | ENSP00000262186.5:p.Gln11Ter |
| NM_000238.3:c.31C>T , LRG_288t1:c.31C>T | NP_000229.1:p.Gln11Ter |
| NM_172056.2:c.31C>T , LRG_288t2:c.31C>T | NP_742053.1:p.Gln11Ter |
| ENST00000262186.9:c.31C>T | ENSP00000262186.5:p.Gln11Ter |
| ENST00000430723.4:c.-147C>T | ENSP00000387657.4:n.-147C>T |
| ENST00000532957.5:n.254C>T | |
| XM_011516186.1:c.31C>T | XP_011514488.1:p.Gln11Ter |
| XM_011516186.3:c.31C>T | XP_011514488.1:p.Gln11Ter |