Linked Data
ClinVar Variation Id:
489390
ClinVar RCV Id:
RCV000579208
dbSNP Id:
rs35933842
ExAC:
12:121570899 G / T
gnomAD v2:
12-121570899-G-T
gnomAD v3:
12-121133096-G-T
gnomAD v4:
12-121133096-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121133096G>T , CM000674.2:g.121133096G>T | GRCh38 |
| NC_000012.11:g.121570899G>T , CM000674.1:g.121570899G>T | GRCh37 |
| NC_000012.10:g.120055282G>T | NCBI36 |
| NG_011471.2:g.5222G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328963.10:c.125+1G>T MANE Select | ENSP00000330696.6:n.125+1G>T | |
| ENST00000261826.10:c.125+1G>T | ENSP00000261826.6:n.125+1G>T | |
| ENST00000328963.9:c.125+1G>T | ENSP00000330696.6:n.125+1G>T | |
| ENST00000535250.5:c.125+1G>T | ENSP00000442572.2:n.125+1G>T | |
| ENST00000535600.2:c.125+1G>T | ENSP00000442470.1:n.125+1G>T | |
| ENST00000535928.5:c.125+1G>T | ENSP00000439961.1:n.125+1G>T | |
| ENST00000537312.5:c.125+1G>T | ENSP00000438586.1:n.125+1G>T | |
| ENST00000538011.5:c.125+1G>T | ENSP00000439247.1:n.125+1G>T | |
| ENST00000539606.5:c.125+1G>T | ENSP00000445325.1:n.125+1G>T | |
| ENST00000539695.5:n.194+1G>T | ||
| ENST00000541022.5:c.125+1G>T | ENSP00000441230.1:n.125+1G>T | |
| ENST00000541564.5:c.125+1G>T | ENSP00000443640.1:n.125+1G>T | |
| ENST00000541716.5:c.125+1G>T | ENSP00000437729.1:n.125+1G>T | |
| ENST00000545434.5:c.125+1G>T | ENSP00000445564.1:n.125+1G>T | |
| NM_002562.5:c.125+1G>T | NP_002553.3:n.125+1G>T | |
| NR_033948.1:n.268+1G>T | ||
| NR_033949.1:n.268+1G>T | ||
| NR_033950.1:n.268+1G>T | ||
| NR_033951.1:n.268+1G>T | ||
| NR_033952.1:n.268+1G>T | ||
| NR_033953.1:n.277+1G>T | ||
| NR_033954.1:n.268+1G>T | ||
| NR_033955.1:n.268+1G>T | ||
| NR_033956.1:n.268+1G>T | ||
| XM_011538418.1:c.125+1G>T | XP_011536720.1:n.125+1G>T | |
| XM_011538419.1:c.-19+1G>T | XP_011536721.1:n.-19+1G>T | |
| XM_011538420.1:c.-437+1G>T | XP_011536722.1:n.-437+1G>T | |
| XM_011538419.3:c.-19+1G>T | XP_011536721.1:n.-19+1G>T | |
| XM_011538420.3:c.-437+1G>T | XP_011536722.1:n.-437+1G>T | |
| XM_017019364.2:c.-389+1G>T | XP_016874853.1:n.-389+1G>T | |
| XM_017019365.2:c.-220+1G>T | XP_016874854.1:n.-220+1G>T | |
| XM_017019366.2:c.-556+1G>T | XP_016874855.1:n.-556+1G>T | |
| XM_017019367.2:c.-387+1G>T | XP_016874856.1:n.-387+1G>T | |
| XR_001749352.2:n.187-6255C>A | ||
| XR_001749354.2:n.187-6255C>A | ||
| NM_002562.6:c.125+1G>T MANE Select | NP_002553.3:n.125+1G>T | |
| NR_033948.2:n.220+1G>T | ||
| NR_033949.2:n.220+1G>T | ||
| NR_033950.2:n.220+1G>T | ||
| NR_033951.2:n.220+1G>T | ||
| NR_033952.2:n.220+1G>T | ||
| NR_033953.2:n.220+1G>T | ||
| NR_033954.2:n.220+1G>T | ||
| NR_033955.2:n.220+1G>T | ||
| NR_033956.2:n.220+1G>T |