Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74715677G>T , CM000667.2:g.74715677G>T | GRCh38 |
| NC_000005.9:g.74011502G>T , CM000667.1:g.74011502G>T | GRCh37 |
| NC_000005.8:g.74047258G>T | NCBI36 |
| NG_009770.1:g.35534G>T | |
| NG_009770.2:g.80655G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.1069G>T MANE Select | NP_000512.2:p.Glu357Ter |
| ENST00000261416.12:c.1069G>T MANE Select | ENSP00000261416.7:p.Glu357Ter |
| NM_000521.3:c.1069G>T | NP_000512.1:p.Glu357Ter |
| NM_001292004.1:c.394G>T | NP_001278933.1:p.Glu132Ter |
| NM_001292004.2:c.394G>T | NP_001278933.1:p.Glu132Ter |
| ENST00000261416.11:c.1069G>T | ENSP00000261416.7:p.Glu357Ter |
| ENST00000504459.5:n.266G>T | |
| ENST00000511181.5:c.394G>T | ENSP00000426285.1:p.Glu132Ter |
| ENST00000511621.1:n.32G>T | |
| ENST00000513336.5:c.92G>T |