Linked Data
dbSNP Id:
rs1341196975
gnomAD v2:
12-53823779-C-T
gnomAD v3:
12-53429995-C-T
gnomAD v4:
12-53429995-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53429995C>T , CM000674.2:g.53429995C>T | GRCh38 |
| NC_000012.11:g.53823779C>T , CM000674.1:g.53823779C>T | GRCh37 |
| NC_000012.10:g.52110046C>T | NCBI36 |
| NG_015981.1:g.11141C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257863.9:c.1288+17C>T MANE Select | ENSP00000257863.3:n.1288+17C>T | |
| ENST00000257863.8:c.1288+17C>T | ENSP00000257863.3:n.1288+17C>T | |
| ENST00000379791.7:c.1140+370C>T | ENSP00000369117.3:n.1140+370C>T | |
| ENST00000550311.5:c.1288+17C>T | ENSP00000446661.1:n.1288+17C>T | |
| ENST00000550839.1:c.379+17C>T | ENSP00000455338.1:n.379+17C>T | |
| ENST00000552233.5:n.893C>T | ||
| NM_001164690.1:c.1288+17C>T | NP_001158162.1:n.1288+17C>T | |
| NM_001164691.1:c.1140+370C>T | NP_001158163.1:n.1140+370C>T | |
| NM_020547.2:c.1288+17C>T | NP_065434.1:n.1288+17C>T | |
| XM_011538173.1:c.1348+17C>T | XP_011536475.1:n.1348+17C>T | |
| XM_011538174.1:c.1345+17C>T | XP_011536476.1:n.1345+17C>T | |
| XM_011538175.1:c.1330+17C>T | XP_011536477.1:n.1330+17C>T | |
| XM_011538176.1:c.1291+17C>T | XP_011536478.1:n.1291+17C>T | |
| XM_011538177.1:c.1270+17C>T | XP_011536479.1:n.1270+17C>T | |
| XM_011538178.1:c.1129+17C>T | XP_011536480.1:n.1129+17C>T | |
| XM_011538179.1:c.1200+370C>T | XP_011536481.1:n.1200+370C>T | |
| XM_011538180.1:c.1015+17C>T | XP_011536482.1:n.1015+17C>T | |
| XM_011538181.1:c.1012+17C>T | XP_011536483.1:n.1012+17C>T | |
| XM_011538182.1:c.937+17C>T | XP_011536484.1:n.937+17C>T | |
| XM_011538183.1:c.1201-151C>T | XP_011536485.1:n.1201-151C>T | |
| XM_011538184.1:c.1220+350C>T | XP_011536486.1:n.1220+350C>T | |
| XM_011538185.1:c.856-1182C>T | XP_011536487.1:n.856-1182C>T | |
| XM_011538186.1:c.463+17C>T | XP_011536488.1:n.463+17C>T | |
| NM_001164690.2:c.1288+17C>T | NP_001158162.1:n.1288+17C>T | |
| NM_001164691.2:c.1140+370C>T | NP_001158163.1:n.1140+370C>T | |
| NM_020547.3:c.1288+17C>T MANE Select | NP_065434.1:n.1288+17C>T | |
| XM_011538183.2:c.1201-151C>T | XP_011536485.1:n.1201-151C>T | |
| XM_011538184.2:c.1220+350C>T | XP_011536486.1:n.1220+350C>T | |
| XM_011538186.3:c.463+17C>T | XP_011536488.1:n.463+17C>T | |
| XM_017019179.2:c.1348+17C>T | XP_016874668.1:n.1348+17C>T | |
| XM_024448938.1:c.1143+370C>T | XP_024304706.1:n.1143+370C>T | |
| XR_002957309.1:n.1256+17C>T | ||
| XR_002957310.1:n.1109-151C>T | ||
| XR_002957311.1:n.1256+17C>T | ||
| XR_002957312.1:n.1108+370C>T |