Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157181026C>T , CM000667.2:g.157181026C>T | GRCh38 |
| NC_000005.9:g.156608037C>T , CM000667.1:g.156608037C>T | GRCh37 |
| NC_000005.8:g.156540615C>T | NCBI36 |
| NG_016276.1:g.5131C>T , LRG_189:g.5131C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005546.4:c.49C>T MANE Select | NP_005537.3:p.Gln17Ter |
| ENST00000422843.8:c.49C>T MANE Select | ENSP00000398655.4:p.Gln17Ter |
| NM_005546.3:c.49C>T , LRG_189t1:c.49C>T | NP_005537.3:p.Gln17Ter |
| ENST00000422843.7:c.49C>T | ENSP00000398655.3:p.Gln17Ter |
| ENST00000517779.1:c.49C>T | ENSP00000431054.1:p.Gln17Ter |
| ENST00000519402.5:n.184C>T | |
| ENST00000520555.5:n.187C>T | |
| ENST00000521769.5:c.-238+14880C>T | ENSP00000430327.1:n.-238+14880C>T |
| ENST00000522616.1:n.190C>T | |
| ENST00000696962.1:c.49C>T | ENSP00000513001.1:p.Gln17Ter |