Linked Data
dbSNP Id:
rs374652050
ExAC:
12:121570921 C / G
gnomAD v2:
12-121570921-C-G
gnomAD v3:
12-121133118-C-G
gnomAD v4:
12-121133118-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121133118C>G , CM000674.2:g.121133118C>G | GRCh38 |
| NC_000012.11:g.121570921C>G , CM000674.1:g.121570921C>G | GRCh37 |
| NC_000012.10:g.120055304C>G | NCBI36 |
| NG_011471.2:g.5244C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.125+23C>G MANE Select | ENSP00000330696.6:n.125+23C>G | |
| ENST00000261826.10:c.125+23C>G | ENSP00000261826.6:n.125+23C>G | |
| ENST00000328963.9:c.125+23C>G | ENSP00000330696.6:n.125+23C>G | |
| ENST00000535250.5:c.125+23C>G | ENSP00000442572.2:n.125+23C>G | |
| ENST00000535600.2:c.125+23C>G | ENSP00000442470.1:n.125+23C>G | |
| ENST00000535928.5:c.125+23C>G | ENSP00000439961.1:n.125+23C>G | |
| ENST00000537312.5:c.125+23C>G | ENSP00000438586.1:n.125+23C>G | |
| ENST00000538011.5:c.125+23C>G | ENSP00000439247.1:n.125+23C>G | |
| ENST00000539606.5:c.125+23C>G | ENSP00000445325.1:n.125+23C>G | |
| ENST00000539695.5:n.194+23C>G | ||
| ENST00000541022.5:c.125+23C>G | ENSP00000441230.1:n.125+23C>G | |
| ENST00000541564.5:c.125+23C>G | ENSP00000443640.1:n.125+23C>G | |
| ENST00000541716.5:c.125+23C>G | ENSP00000437729.1:n.125+23C>G | |
| ENST00000545434.5:c.125+23C>G | ENSP00000445564.1:n.125+23C>G | |
| NM_002562.5:c.125+23C>G | NP_002553.3:n.125+23C>G | |
| NR_033948.1:n.268+23C>G | ||
| NR_033949.1:n.268+23C>G | ||
| NR_033950.1:n.268+23C>G | ||
| NR_033951.1:n.268+23C>G | ||
| NR_033952.1:n.268+23C>G | ||
| NR_033953.1:n.277+23C>G | ||
| NR_033954.1:n.268+23C>G | ||
| NR_033955.1:n.268+23C>G | ||
| NR_033956.1:n.268+23C>G | ||
| XM_011538418.1:c.125+23C>G | XP_011536720.1:n.125+23C>G | |
| XM_011538419.1:c.-19+23C>G | XP_011536721.1:n.-19+23C>G | |
| XM_011538420.1:c.-437+23C>G | XP_011536722.1:n.-437+23C>G | |
| XM_011538419.3:c.-19+23C>G | XP_011536721.1:n.-19+23C>G | |
| XM_011538420.3:c.-437+23C>G | XP_011536722.1:n.-437+23C>G | |
| XM_017019364.2:c.-389+23C>G | XP_016874853.1:n.-389+23C>G | |
| XM_017019365.2:c.-220+23C>G | XP_016874854.1:n.-220+23C>G | |
| XM_017019366.2:c.-556+23C>G | XP_016874855.1:n.-556+23C>G | |
| XM_017019367.2:c.-387+23C>G | XP_016874856.1:n.-387+23C>G | |
| XR_001749352.2:n.187-6277G>C | ||
| XR_001749354.2:n.187-6277G>C | ||
| NM_002562.6:c.125+23C>G MANE Select | NP_002553.3:n.125+23C>G | |
| NR_033948.2:n.220+23C>G | ||
| NR_033949.2:n.220+23C>G | ||
| NR_033950.2:n.220+23C>G | ||
| NR_033951.2:n.220+23C>G | ||
| NR_033952.2:n.220+23C>G | ||
| NR_033953.2:n.220+23C>G | ||
| NR_033954.2:n.220+23C>G | ||
| NR_033955.2:n.220+23C>G | ||
| NR_033956.2:n.220+23C>G |