Linked Data
dbSNP Id:
rs12142335
gnomAD v2:
1-108302922-G-A
gnomAD v3:
1-107760300-G-A
gnomAD v4:
1-107760300-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.107760300G>A , CM000663.2:g.107760300G>A | GRCh38 |
| NC_000001.10:g.108302922G>A , CM000663.1:g.108302922G>A | GRCh37 |
| NC_000001.9:g.108104445G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370056.9:c.1017+484C>T MANE Select | ENSP00000359073.4:n.1017+484C>T | |
| ENST00000343258.8:n.863+484C>T | ||
| ENST00000370056.8:c.1017+484C>T | ENSP00000359073.4:n.1017+484C>T | |
| ENST00000469325.5:n.1093+484C>T | ||
| ENST00000490388.2:c.1001+484C>T | ||
| ENST00000527011.5:c.1017+484C>T | ENSP00000432540.1:n.1017+484C>T | |
| NM_006113.4:c.1017+484C>T | NP_006104.4:n.1017+484C>T | |
| XM_005270360.1:c.735+484C>T | XP_005270417.1:n.735+484C>T | |
| XM_005270361.1:c.1017+484C>T | XP_005270418.1:n.1017+484C>T | |
| XM_011540502.1:c.1065+484C>T | XP_011538804.1:n.1065+484C>T | |
| XM_011540503.1:c.1065+484C>T | XP_011538805.1:n.1065+484C>T | |
| XM_011540504.1:c.1065+484C>T | XP_011538806.1:n.1065+484C>T | |
| XM_011540505.1:c.1065+484C>T | XP_011538807.1:n.1065+484C>T | |
| XM_011540506.1:c.1065+484C>T | XP_011538808.1:n.1065+484C>T | |
| XR_946522.1:n.1143+484C>T | ||
| XM_005270360.2:c.735+484C>T | XP_005270417.1:n.735+484C>T | |
| XM_017000053.1:c.1017+484C>T | XP_016855542.1:n.1017+484C>T | |
| XM_017000054.1:c.1017+484C>T | XP_016855543.1:n.1017+484C>T | |
| XM_017000055.1:c.729+484C>T | XP_016855544.1:n.729+484C>T | |
| XM_024450319.1:c.756+484C>T | XP_024306087.1:n.756+484C>T | |
| XR_001736913.1:n.1064+484C>T | ||
| NM_006113.5:c.1017+484C>T MANE Select | NP_006104.4:n.1017+484C>T |