Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98007903A>G , CM000665.2:g.98007903A>G | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001105580.3:c.615T>C MANE Select | NP_001099050.1:p.Tyr205= |
| ENST00000472788.6:c.615T>C MANE Select | ENSP00000420790.1:p.Tyr205= |
| NM_001105580.2:c.615T>C | NP_001099050.1:p.Tyr205= |
| ENST00000470589.1:n.501+4441T>C | |
| ENST00000472788.5:c.615T>C | ENSP00000420790.1:p.Tyr205= |
| ENST00000621172.4:c.615T>C | ENSP00000481321.1:p.Tyr205= |