Linked Data
ClinVar Variation Id:
9082
dbSNP Id:
rs121917885
ExAC:
3:151055867 C / T
gnomAD v2:
3-151055867-C-T
gnomAD v4:
3-151338079-C-T
COSMIC:
COSM304308
PubMed:
PMID:20966167
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.151338079C>T , CM000665.2:g.151338079C>T | GRCh38 |
| NC_000003.11:g.151055867C>T , CM000665.1:g.151055867C>T | GRCh37 |
| NC_000003.10:g.152538557C>T | NCBI36 |
| NG_016019.1:g.51678G>A , LRG_569:g.51678G>A | |
| NG_021244.1:g.256192C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685357.1:n.2509-11980C>T (MED12L) | ||
| ENST00000686666.1:c.1864-11980C>T (MED12L) | ENSP00000509482.1:n.1864-11980C>T | |
| ENST00000687756.1:c.2251-11980C>T (MED12L) MANE Select | ENSP00000508695.1:n.2251-11980C>T | |
| ENST00000693531.1:n.2326-11980C>T (MED12L) | ||
| ENST00000302632.4:c.767G>A (P2RY12) MANE Select | ENSP00000307259.4:p.Arg256Gln | |
| ENST00000273432.8:c.1726-11980C>T (MED12L) | ENSP00000273432.4:n.1726-11980C>T | |
| ENST00000302632.3:c.767G>A (P2RY12) | ENSP00000307259.3:p.Arg256Gln | |
| ENST00000468305.1:n.328-11980C>T (MED12L) | ||
| ENST00000474524.5:c.2146-11980C>T (MED12L) | ENSP00000417235.1:n.2146-11980C>T | |
| ENST00000491549.5:n.74-11980C>T (MED12L) | ||
| NM_022788.4:c.767G>A , LRG_569t1:c.767G>A (P2RY12) | NP_073625.1:p.Arg256Gln | |
| NM_053002.5:c.2146-11980C>T (MED12L) | NP_443728.3:n.2146-11980C>T | |
| NM_176876.2:c.767G>A (P2RY12) | NP_795345.1:p.Arg256Gln | |
| XM_006713487.2:c.2251-11980C>T (MED12L) | XP_006713550.1:n.2251-11980C>T | |
| XM_011512386.1:c.2251-11980C>T (MED12L) | XP_011510688.1:n.2251-11980C>T | |
| XM_011512387.1:c.2251-11980C>T (MED12L) | XP_011510689.1:n.2251-11980C>T | |
| XM_011512388.1:c.2251-11980C>T (MED12L) | XP_011510690.1:n.2251-11980C>T | |
| XM_011512389.1:c.2146-11980C>T (MED12L) | XP_011510691.1:n.2146-11980C>T | |
| XM_011512390.1:c.2146-11980C>T (MED12L) | XP_011510692.1:n.2146-11980C>T | |
| XM_011512391.1:c.1981-11980C>T (MED12L) | XP_011510693.1:n.1981-11980C>T | |
| XM_011512392.1:c.1795-11980C>T (MED12L) | XP_011510694.1:n.1795-11980C>T | |
| XM_011512393.1:c.2251-11980C>T (MED12L) | XP_011510695.1:n.2251-11980C>T | |
| XM_011512394.1:c.2251-11980C>T (MED12L) | XP_011510696.1:n.2251-11980C>T | |
| XM_011512395.1:c.2251-11980C>T (MED12L) | XP_011510697.1:n.2251-11980C>T | |
| XM_011512396.1:c.676-11980C>T (MED12L) | XP_011510698.1:n.676-11980C>T | |
| XM_011512398.1:c.46-11980C>T (MED12L) | XP_011510700.1:n.46-11980C>T | |
| XM_011512399.1:c.2251-11980C>T (MED12L) | XP_011510701.1:n.2251-11980C>T | |
| XM_006713487.3:c.2251-11980C>T (MED12L) | XP_006713550.1:n.2251-11980C>T | |
| XM_011512390.2:c.2146-11980C>T (MED12L) | XP_011510692.1:n.2146-11980C>T | |
| XM_011512394.2:c.2251-11980C>T (MED12L) | XP_011510696.1:n.2251-11980C>T | |
| XM_011512399.3:c.2251-11980C>T (MED12L) | XP_011510701.1:n.2251-11980C>T | |
| XM_017005676.1:c.2251-11980C>T (MED12L) | XP_016861165.1:n.2251-11980C>T | |
| XM_017005677.1:c.2251-11980C>T (MED12L) | XP_016861166.1:n.2251-11980C>T | |
| XM_017005678.1:c.2251-11980C>T (MED12L) | XP_016861167.1:n.2251-11980C>T | |
| XM_017005679.1:c.1981-11980C>T (MED12L) | XP_016861168.1:n.1981-11980C>T | |
| XM_017005680.1:c.1969-11980C>T (MED12L) | XP_016861169.1:n.1969-11980C>T | |
| XR_001740000.1:n.2652-11980C>T (MED12L) | ||
| NM_022788.5:c.767G>A (P2RY12) MANE Select | NP_073625.1:p.Arg256Gln | |
| NM_176876.3:c.767G>A (P2RY12) | NP_795345.1:p.Arg256Gln | |
| NM_001393769.1:c.2251-11980C>T (MED12L) MANE Select | NP_001380698.1:n.2251-11980C>T | |
| NM_053002.6:c.2146-11980C>T (MED12L) | NP_443728.3:n.2146-11980C>T |