ClinVar RCV:
ClinVar Variation:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.151328562A>G , CM000665.2:g.151328562A>G | GRCh38 |
| NC_000003.11:g.151046350A>G , CM000665.1:g.151046350A>G | GRCh37 |
| NC_000003.10:g.152529040A>G | NCBI36 |
| NG_021244.1:g.246675A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685357.1:n.2509-21497A>G (MED12L) | ||
| ENST00000686666.1:c.1864-21497A>G (MED12L) | ENSP00000509482.1:n.1864-21497A>G | |
| ENST00000687756.1:c.2251-21497A>G (MED12L) MANE Select | ENSP00000508695.1:n.2251-21497A>G | |
| ENST00000688234.1:c.2251-7945A>G (MED12L) | ENSP00000509197.1:n.2251-7945A>G | |
| ENST00000693531.1:n.2326-21497A>G (MED12L) | ||
| ENST00000325602.6:c.494T>C (P2RY13) MANE Select | ENSP00000320376.5:p.Ile165Thr | |
| ENST00000273432.8:c.1726-21497A>G (MED12L) | ENSP00000273432.4:n.1726-21497A>G | |
| ENST00000325602.5:c.494T>C (P2RY13) | ENSP00000320376.5:p.Ile165Thr | |
| ENST00000468305.1:n.327+11816A>G (MED12L) | ||
| ENST00000474524.5:c.2146-21497A>G (MED12L) | ENSP00000417235.1:n.2146-21497A>G | |
| ENST00000480026.1:c.194-7945A>G (MED12L) | ||
| ENST00000491549.5:n.74-21497A>G (MED12L) | ||
| NM_053002.5:c.2146-21497A>G (MED12L) | NP_443728.3:n.2146-21497A>G | |
| NM_176894.2:c.494T>C (P2RY13) | NP_795713.2:p.Ile165Thr | |
| XM_006713487.2:c.2251-21497A>G (MED12L) | XP_006713550.1:n.2251-21497A>G | |
| XM_006713664.1:c.494T>C (P2RY13) | XP_006713727.1:p.Ile165Thr | |
| XM_011512386.1:c.2251-21497A>G (MED12L) | XP_011510688.1:n.2251-21497A>G | |
| XM_011512387.1:c.2251-21497A>G (MED12L) | XP_011510689.1:n.2251-21497A>G | |
| XM_011512388.1:c.2251-21497A>G (MED12L) | XP_011510690.1:n.2251-21497A>G | |
| XM_011512389.1:c.2146-21497A>G (MED12L) | XP_011510691.1:n.2146-21497A>G | |
| XM_011512390.1:c.2146-21497A>G (MED12L) | XP_011510692.1:n.2146-21497A>G | |
| XM_011512391.1:c.1981-21497A>G (MED12L) | XP_011510693.1:n.1981-21497A>G | |
| XM_011512392.1:c.1795-21497A>G (MED12L) | XP_011510694.1:n.1795-21497A>G | |
| XM_011512393.1:c.2251-21497A>G (MED12L) | XP_011510695.1:n.2251-21497A>G | |
| XM_011512394.1:c.2251-21497A>G (MED12L) | XP_011510696.1:n.2251-21497A>G | |
| XM_011512395.1:c.2251-21497A>G (MED12L) | XP_011510697.1:n.2251-21497A>G | |
| XM_011512396.1:c.676-21497A>G (MED12L) | XP_011510698.1:n.676-21497A>G | |
| XM_011512398.1:c.46-21497A>G (MED12L) | XP_011510700.1:n.46-21497A>G | |
| XM_011512399.1:c.2251-21497A>G (MED12L) | XP_011510701.1:n.2251-21497A>G | |
| XM_006713487.3:c.2251-21497A>G (MED12L) | XP_006713550.1:n.2251-21497A>G | |
| XM_011512390.2:c.2146-21497A>G (MED12L) | XP_011510692.1:n.2146-21497A>G | |
| XM_011512394.2:c.2251-21497A>G (MED12L) | XP_011510696.1:n.2251-21497A>G | |
| XM_011512399.3:c.2251-21497A>G (MED12L) | XP_011510701.1:n.2251-21497A>G | |
| XM_017005676.1:c.2251-21497A>G (MED12L) | XP_016861165.1:n.2251-21497A>G | |
| XM_017005677.1:c.2251-21497A>G (MED12L) | XP_016861166.1:n.2251-21497A>G | |
| XM_017005678.1:c.2251-21497A>G (MED12L) | XP_016861167.1:n.2251-21497A>G | |
| XM_017005679.1:c.1981-21497A>G (MED12L) | XP_016861168.1:n.1981-21497A>G | |
| XM_017005680.1:c.1969-21497A>G (MED12L) | XP_016861169.1:n.1969-21497A>G | |
| XR_001740000.1:n.2652-21497A>G (MED12L) | ||
| NM_176894.3:c.494T>C (P2RY13) MANE Select | NP_795713.2:p.Ile165Thr | |
| NM_001393769.1:c.2251-21497A>G (MED12L) MANE Select | NP_001380698.1:n.2251-21497A>G | |
| NM_053002.6:c.2146-21497A>G (MED12L) | NP_443728.3:n.2146-21497A>G |