Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74741087G>T , CM000685.2:g.74741087G>T | GRCh38 |
| NC_000023.10:g.73960922G>T , CM000685.1:g.73960922G>T | GRCh37 |
| NC_000023.9:g.73877647G>T | NCBI36 |
| NG_027726.1:g.189366C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000055682.12:c.3470C>A MANE Select | ENSP00000055682.5:p.Ser1157Ter | |
| ENST00000616200.2:c.3470C>A | ENSP00000480284.1:p.Ser1157Ter | |
| ENST00000642681.2:c.3470C>A | ENSP00000495800.1:p.Ser1157Ter | |
| ENST00000055682.10:c.3470C>A | ENSP00000055682.5:p.Ser1157Ter | |
| ENST00000616200.1:c.3470C>A | ENSP00000480284.1:p.Ser1157Ter | |
| NM_001008537.2:c.3470C>A | NP_001008537.1:p.Ser1157Ter | |
| XM_011530935.1:c.3470C>A | XP_011529237.1:p.Ser1157Ter | |
| NM_001008537.3:c.3470C>A MANE Select | NP_001008537.1:p.Ser1157Ter |