Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97049109C>G , CM000672.2:g.97049109C>G | GRCh38 |
| NC_000010.10:g.98808866C>G , CM000672.1:g.98808866C>G | GRCh37 |
| NC_000010.9:g.98798856C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266058.9:c.1311G>C MANE Select | ENSP00000266058.4:p.Ala437= | |
| ENST00000266058.8:c.1311G>C | ENSP00000266058.4:p.Ala437= | |
| ENST00000314867.9:c.1290G>C | ENSP00000315005.5:p.Ala430= | |
| ENST00000371070.8:c.1311G>C | ENSP00000360109.4:p.Ala437= | |
| NM_003061.2:c.1311G>C | NP_003052.2:p.Ala437= | |
| NM_003061.3:c.1311G>C MANE Select | NP_003052.2:p.Ala437= |