Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588228C>A , CM000672.2:g.113588228C>A | GRCh38 |
| NC_000010.10:g.115347987C>A , CM000672.1:g.115347987C>A | GRCh37 |
| NC_000010.9:g.115337977C>A | NCBI36 |
| NG_008956.1:g.40210C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.1542C>A MANE Select | ENSP00000277903.4:p.Thr514= | |
| ENST00000351270.3:c.1542C>A | ENSP00000277903.4:p.Thr514= | |
| ENST00000542051.5:c.1464C>A | ENSP00000443283.1:p.Thr488= | |
| NM_001177660.1:c.1464C>A | NP_001171131.1:p.Thr488= | |
| NM_004132.3:c.1542C>A | NP_004123.1:p.Thr514= | |
| NM_001177660.2:c.1464C>A | NP_001171131.1:p.Thr488= | |
| NM_004132.4:c.1542C>A | NP_004123.1:p.Thr514= | |
| NM_004132.5:c.1542C>A MANE Select | NP_004123.1:p.Thr514= | |
| NM_001177660.3:c.1464C>A | NP_001171131.1:p.Thr488= |