Linked Data
dbSNP Id:
rs17730436
gnomAD v2:
15-53942928-T-C
gnomAD v3:
15-53650731-T-C
gnomAD v4:
15-53650731-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.53650731T>C , CM000677.2:g.53650731T>C | GRCh38 |
| NC_000015.9:g.53942928T>C , CM000677.1:g.53942928T>C | GRCh37 |
| NC_000015.8:g.51730220T>C | NCBI36 |
| NG_017034.2:g.113932A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360509.10:c.1962+14841A>G MANE Select | ENSP00000353699.5:n.1962+14841A>G | |
| ENST00000360509.9:c.1962+14841A>G | ENSP00000353699.5:n.1962+14841A>G | |
| ENST00000396328.5:c.1962+14841A>G | ENSP00000379619.1:n.1962+14841A>G | |
| ENST00000557913.5:c.1953+14841A>G | ENSP00000453378.1:n.1953+14841A>G | |
| ENST00000559418.5:c.1992+14841A>G | ENSP00000452765.1:n.1992+14841A>G | |
| ENST00000560036.1:c.1962+14841A>G | ENSP00000453813.1:n.1962+14841A>G | |
| NM_182758.3:c.1962+14841A>G | NP_877435.3:n.1962+14841A>G | |
| NR_102334.1:n.2202+14841A>G | ||
| XM_011521433.1:c.1962+14841A>G | XP_011519735.1:n.1962+14841A>G | |
| XM_011521434.1:c.1962+14841A>G | XP_011519736.1:n.1962+14841A>G | |
| XM_011521435.1:c.1962+14841A>G | XP_011519737.1:n.1962+14841A>G | |
| XM_011521436.1:c.1944+14841A>G | XP_011519738.1:n.1944+14841A>G | |
| XM_011521437.1:c.1842+14841A>G | XP_011519739.1:n.1842+14841A>G | |
| XM_011521433.2:c.1962+14841A>G | XP_011519735.1:n.1962+14841A>G | |
| XM_011521435.2:c.1962+14841A>G | XP_011519737.1:n.1962+14841A>G | |
| XM_011521436.2:c.1944+14841A>G | XP_011519738.1:n.1944+14841A>G | |
| XM_011521437.2:c.1842+14841A>G | XP_011519739.1:n.1842+14841A>G | |
| XM_017022061.1:c.1962+14841A>G | XP_016877550.1:n.1962+14841A>G | |
| NM_182758.4:c.1962+14841A>G MANE Select | NP_877435.3:n.1962+14841A>G | |
| NR_102334.2:n.2202+14841A>G |