Linked Data
dbSNP Id:
rs1192512969
gnomAD v2:
12-53823782-T-G
gnomAD v4:
12-53429998-T-G
MyVariant Identifiers:
chr12:g.53823782T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53429998T>G , CM000674.2:g.53429998T>G | GRCh38 |
| NC_000012.11:g.53823782T>G , CM000674.1:g.53823782T>G | GRCh37 |
| NC_000012.10:g.52110049T>G | NCBI36 |
| NG_015981.1:g.11144T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257863.9:c.1288+20T>G MANE Select | ENSP00000257863.3:n.1288+20T>G | |
| ENST00000257863.8:c.1288+20T>G | ENSP00000257863.3:n.1288+20T>G | |
| ENST00000379791.7:c.1140+373T>G | ENSP00000369117.3:n.1140+373T>G | |
| ENST00000550311.5:c.1288+20T>G | ENSP00000446661.1:n.1288+20T>G | |
| ENST00000550839.1:c.379+20T>G | ENSP00000455338.1:n.379+20T>G | |
| ENST00000552233.5:n.896T>G | ||
| NM_001164690.1:c.1288+20T>G | NP_001158162.1:n.1288+20T>G | |
| NM_001164691.1:c.1140+373T>G | NP_001158163.1:n.1140+373T>G | |
| NM_020547.2:c.1288+20T>G | NP_065434.1:n.1288+20T>G | |
| XM_011538173.1:c.1348+20T>G | XP_011536475.1:n.1348+20T>G | |
| XM_011538174.1:c.1345+20T>G | XP_011536476.1:n.1345+20T>G | |
| XM_011538175.1:c.1330+20T>G | XP_011536477.1:n.1330+20T>G | |
| XM_011538176.1:c.1291+20T>G | XP_011536478.1:n.1291+20T>G | |
| XM_011538177.1:c.1270+20T>G | XP_011536479.1:n.1270+20T>G | |
| XM_011538178.1:c.1129+20T>G | XP_011536480.1:n.1129+20T>G | |
| XM_011538179.1:c.1200+373T>G | XP_011536481.1:n.1200+373T>G | |
| XM_011538180.1:c.1015+20T>G | XP_011536482.1:n.1015+20T>G | |
| XM_011538181.1:c.1012+20T>G | XP_011536483.1:n.1012+20T>G | |
| XM_011538182.1:c.937+20T>G | XP_011536484.1:n.937+20T>G | |
| XM_011538183.1:c.1201-148T>G | XP_011536485.1:n.1201-148T>G | |
| XM_011538184.1:c.1220+353T>G | XP_011536486.1:n.1220+353T>G | |
| XM_011538185.1:c.856-1179T>G | XP_011536487.1:n.856-1179T>G | |
| XM_011538186.1:c.463+20T>G | XP_011536488.1:n.463+20T>G | |
| NM_001164690.2:c.1288+20T>G | NP_001158162.1:n.1288+20T>G | |
| NM_001164691.2:c.1140+373T>G | NP_001158163.1:n.1140+373T>G | |
| NM_020547.3:c.1288+20T>G MANE Select | NP_065434.1:n.1288+20T>G | |
| XM_011538183.2:c.1201-148T>G | XP_011536485.1:n.1201-148T>G | |
| XM_011538184.2:c.1220+353T>G | XP_011536486.1:n.1220+353T>G | |
| XM_011538186.3:c.463+20T>G | XP_011536488.1:n.463+20T>G | |
| XM_017019179.2:c.1348+20T>G | XP_016874668.1:n.1348+20T>G | |
| XM_024448938.1:c.1143+373T>G | XP_024304706.1:n.1143+373T>G | |
| XR_002957309.1:n.1256+20T>G | ||
| XR_002957310.1:n.1109-148T>G | ||
| XR_002957311.1:n.1256+20T>G | ||
| XR_002957312.1:n.1108+373T>G |