Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659336C= , CM000685.2:g.136659336C= | GRCh38 |
| NC_000023.10:g.135741495C= , CM000685.1:g.135741495C= | GRCh37 |
| NC_000023.9:g.135569161C= | NCBI36 |
| NG_007280.1:g.16160C= , LRG_141:g.16160C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*325C= | ENSP00000512122.1:n.*325C= | |
| ENST00000695725.1:c.*262C= | ENSP00000512123.1:n.*262C= | |
| ENST00000695726.1:n.2675C= | ||
| ENST00000695729.1:n.3510C= | ||
| ENST00000370629.7:c.707C= MANE Select | ENSP00000359663.2:p.Ser236= | |
| ENST00000370628.2:c.644C= | ENSP00000359662.2:p.Ser215= | |
| ENST00000370629.6:c.707C= | ENSP00000359663.2:p.Ser236= | |
| NM_000074.2:c.707C= , LRG_141t1:c.707C= | NP_000065.1:p.Ser236= | |
| NM_000074.3:c.707C= MANE Select | NP_000065.1:p.Ser236= |