Linked Data
ClinVar Variation Id:
166737
dbSNP Id:
rs115987385
ExAC:
4:122754557 T / A
gnomAD v2:
4-122754557-T-A
gnomAD v3:
4-121833402-T-A
gnomAD v4:
4-121833402-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121833402T>A , CM000666.2:g.121833402T>A | GRCh38 |
| NC_000004.11:g.122754557T>A , CM000666.1:g.122754557T>A | GRCh37 |
| NC_000004.10:g.122974007T>A | NCBI36 |
| NG_009111.1:g.42086A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264499.9:c.1512-7A>T MANE Select | ENSP00000264499.4:n.1512-7A>T | |
| ENST00000264499.8:c.1512-7A>T | ENSP00000264499.4:n.1512-7A>T | |
| ENST00000506636.1:c.1512-7A>T | ENSP00000423626.1:n.1512-7A>T | |
| NM_018190.3:c.1512-7A>T | NP_060660.2:n.1512-7A>T | |
| NM_176824.2:c.1512-7A>T | NP_789794.1:n.1512-7A>T | |
| XM_005263106.2:c.1515-7A>T | XP_005263163.1:n.1515-7A>T | |
| XM_011532079.1:c.1560-7A>T | XP_011530381.1:n.1560-7A>T | |
| XM_011532080.1:c.1557-7A>T | XP_011530382.1:n.1557-7A>T | |
| XM_011532081.1:c.1559+1742A>T | XP_011530383.1:n.1559+1742A>T | |
| XM_005263106.4:c.1515-7A>T | XP_005263163.1:n.1515-7A>T | |
| XM_011532079.3:c.1560-7A>T | XP_011530381.1:n.1560-7A>T | |
| XM_011532080.3:c.1557-7A>T | XP_011530382.1:n.1557-7A>T | |
| XM_011532081.3:c.1559+1742A>T | XP_011530383.1:n.1559+1742A>T | |
| XM_017008357.2:c.1511+1742A>T | XP_016863846.1:n.1511+1742A>T | |
| XM_017008358.2:c.1514+1742A>T | XP_016863847.1:n.1514+1742A>T | |
| NM_176824.3:c.1512-7A>T MANE Select | NP_789794.1:n.1512-7A>T | |
| NM_018190.4:c.1512-7A>T | NP_060660.2:n.1512-7A>T |