Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951916C>T , CM000670.2:g.19951916C>T | GRCh38 |
| NC_000008.10:g.19809427C>T , CM000670.1:g.19809427C>T | GRCh37 |
| NC_000008.9:g.19853707C>T | NCBI36 |
| NG_008855.1:g.17846C>T | |
| NG_008855.2:g.55200C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.397C>T MANE Select | NP_000228.1:p.Gln133Ter |
| ENST00000650287.1:c.397C>T MANE Select | ENSP00000497642.1:p.Gln133Ter |
| NM_000237.2:c.397C>T | NP_000228.1:p.Gln133Ter |
| ENST00000311322.8:c.397C>T | ENSP00000309757.6:p.Gln133Ter |
| ENST00000520959.5:c.169C>T | ENSP00000428496.1:p.Gln57Ter |