Linked Data
ClinVar Variation Id:
729312
ClinVar RCV Id:
RCV000903939
dbSNP Id:
rs74811185
ExAC:
3:150931203 G / A
gnomAD v2:
3-150931203-G-A
gnomAD v3:
3-151213415-G-A
gnomAD v4:
3-151213415-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.151213415G>A , CM000665.2:g.151213415G>A | GRCh38 |
| NC_000003.11:g.150931203G>A , CM000665.1:g.150931203G>A | GRCh37 |
| NC_000003.10:g.152413893G>A | NCBI36 |
| NG_021244.1:g.131528G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685357.1:n.2508+19749G>A (MED12L) | ||
| ENST00000686666.1:c.1863+22484G>A (MED12L) | ENSP00000509482.1:n.1863+22484G>A | |
| ENST00000687756.1:c.2250+19749G>A (MED12L) MANE Select | ENSP00000508695.1:n.2250+19749G>A | |
| ENST00000688234.1:c.2250+19749G>A (MED12L) | ENSP00000509197.1:n.2250+19749G>A | |
| ENST00000693531.1:n.2325+19749G>A (MED12L) | ||
| ENST00000309170.8:c.902C>T (P2RY14) MANE Select | ENSP00000308361.3:p.Pro301Leu | |
| ENST00000273432.8:c.1725+19749G>A (MED12L) | ENSP00000273432.4:n.1725+19749G>A | |
| ENST00000309170.7:c.902C>T (P2RY14) | ENSP00000308361.3:p.Pro301Leu | |
| ENST00000424796.6:c.902C>T (P2RY14) | ENSP00000408733.2:p.Pro301Leu | |
| ENST00000474524.5:c.2145+19749G>A (MED12L) | ENSP00000417235.1:n.2145+19749G>A | |
| ENST00000480026.1:c.193+19749G>A (MED12L) | ||
| NM_001081455.1:c.902C>T (P2RY14) | NP_001074924.1:p.Pro301Leu | |
| NM_014879.3:c.902C>T (P2RY14) | NP_055694.3:p.Pro301Leu | |
| NM_053002.5:c.2145+19749G>A (MED12L) | NP_443728.3:n.2145+19749G>A | |
| XM_005247922.3:c.902C>T (P2RY14) | XP_005247979.1:p.Pro301Leu | |
| XM_005247923.2:c.902C>T (P2RY14) | XP_005247980.1:p.Pro301Leu | |
| XM_006713487.2:c.2250+19749G>A (MED12L) | XP_006713550.1:n.2250+19749G>A | |
| XM_011512386.1:c.2250+19749G>A (MED12L) | XP_011510688.1:n.2250+19749G>A | |
| XM_011512387.1:c.2250+19749G>A (MED12L) | XP_011510689.1:n.2250+19749G>A | |
| XM_011512388.1:c.2250+19749G>A (MED12L) | XP_011510690.1:n.2250+19749G>A | |
| XM_011512389.1:c.2145+19749G>A (MED12L) | XP_011510691.1:n.2145+19749G>A | |
| XM_011512390.1:c.2145+19749G>A (MED12L) | XP_011510692.1:n.2145+19749G>A | |
| XM_011512391.1:c.1980+19749G>A (MED12L) | XP_011510693.1:n.1980+19749G>A | |
| XM_011512392.1:c.1794+19749G>A (MED12L) | XP_011510694.1:n.1794+19749G>A | |
| XM_011512393.1:c.2250+19749G>A (MED12L) | XP_011510695.1:n.2250+19749G>A | |
| XM_011512394.1:c.2250+19749G>A (MED12L) | XP_011510696.1:n.2250+19749G>A | |
| XM_011512395.1:c.2250+19749G>A (MED12L) | XP_011510697.1:n.2250+19749G>A | |
| XM_011512396.1:c.675+19749G>A (MED12L) | XP_011510698.1:n.675+19749G>A | |
| XM_011512399.1:c.2250+19749G>A (MED12L) | XP_011510701.1:n.2250+19749G>A | |
| XM_011513340.1:c.902C>T (P2RY14) | XP_011511642.1:p.Pro301Leu | |
| XM_005247923.3:c.902C>T (P2RY14) | XP_005247980.1:p.Pro301Leu | |
| XM_006713487.3:c.2250+19749G>A (MED12L) | XP_006713550.1:n.2250+19749G>A | |
| XM_011512390.2:c.2145+19749G>A (MED12L) | XP_011510692.1:n.2145+19749G>A | |
| XM_011512394.2:c.2250+19749G>A (MED12L) | XP_011510696.1:n.2250+19749G>A | |
| XM_011512399.3:c.2250+19749G>A (MED12L) | XP_011510701.1:n.2250+19749G>A | |
| XM_011513340.3:c.902C>T (P2RY14) | XP_011511642.1:p.Pro301Leu | |
| XM_017005676.1:c.2250+19749G>A (MED12L) | XP_016861165.1:n.2250+19749G>A | |
| XM_017005677.1:c.2250+19749G>A (MED12L) | XP_016861166.1:n.2250+19749G>A | |
| XM_017005678.1:c.2250+19749G>A (MED12L) | XP_016861167.1:n.2250+19749G>A | |
| XM_017005679.1:c.1980+19749G>A (MED12L) | XP_016861168.1:n.1980+19749G>A | |
| XM_017005680.1:c.1968+22484G>A (MED12L) | XP_016861169.1:n.1968+22484G>A | |
| XM_017007583.2:c.902C>T (P2RY14) | XP_016863072.1:p.Pro301Leu | |
| XR_001740000.1:n.2651+19749G>A (MED12L) | ||
| NM_014879.4:c.902C>T (P2RY14) MANE Select | NP_055694.3:p.Pro301Leu | |
| NM_001081455.2:c.902C>T (P2RY14) | NP_001074924.1:p.Pro301Leu | |
| NM_001393769.1:c.2250+19749G>A (MED12L) MANE Select | NP_001380698.1:n.2250+19749G>A | |
| NM_053002.6:c.2145+19749G>A (MED12L) | NP_443728.3:n.2145+19749G>A |