Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2250659G>A , CM000681.2:g.2250659G>A | GRCh38 |
| NC_000019.9:g.2250658G>A , CM000681.1:g.2250658G>A | GRCh37 |
| NC_000019.8:g.2201658G>A | NCBI36 |
| NG_012190.1:g.6546G>A | |
| NG_032853.1:g.10765C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000479.5:c.563G>A (AMH) MANE Select | NP_000470.3:p.Cys188Tyr |
| ENST00000221496.5:c.563G>A (AMH) MANE Select | ENSP00000221496.2:p.Cys188Tyr |
| NM_000479.3:c.563G>A (AMH) | NP_000470.2:p.Cys188Tyr |
| NM_000479.4:c.563G>A (AMH) | NP_000470.2:p.Cys188Tyr |
| NR_036207.1:n.21G>A (MIR4321) | |
| ENST00000221496.4:c.563G>A (AMH) | ENSP00000221496.2:p.Cys188Tyr |
| ENST00000589313.2:n.916G>A (AMH) | |
| ENST00000592877.1:n.444G>A (AMH) |