Linked Data
dbSNP Id:
rs34750
gnomAD v2:
5-96142806-G-C
gnomAD v3:
5-96807103-G-C
gnomAD v4:
5-96807103-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96807103G>C , CM000667.2:g.96807103G>C | GRCh38 |
| NC_000005.9:g.96142806G>C , CM000667.1:g.96142806G>C | GRCh37 |
| NC_000005.8:g.96168562G>C | NCBI36 |
| NG_027839.1:g.12043C>G | |
| NG_027839.2:g.133881C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000443439.7:c.-18+757C>G MANE Select | ENSP00000406304.2:n.-18+757C>G | |
| ENST00000296754.7:c.-18+757C>G | ENSP00000296754.3:n.-18+757C>G | |
| ENST00000443439.6:c.-18+757C>G | ENSP00000406304.2:n.-18+757C>G | |
| ENST00000503921.5:c.-486+757C>G | ENSP00000427025.1:n.-486+757C>G | |
| ENST00000507154.1:c.-134+757C>G | ENSP00000421697.1:n.-134+757C>G | |
| ENST00000508227.5:c.-466+757C>G | ENSP00000422631.1:n.-466+757C>G | |
| NM_001040458.1:c.-18+757C>G | NP_001035548.1:n.-18+757C>G | |
| NM_001198541.1:c.-17-3160C>G | NP_001185470.1:n.-17-3160C>G | |
| NM_016442.3:c.-18+757C>G | NP_057526.3:n.-18+757C>G | |
| XM_005272015.3:c.-18+757C>G | XP_005272072.1:n.-18+757C>G | |
| XM_005272016.3:c.-14+757C>G | XP_005272073.1:n.-14+757C>G | |
| XM_011543480.1:c.-17-3160C>G | XP_011541782.1:n.-17-3160C>G | |
| XM_011543481.1:c.-17-3160C>G | XP_011541783.1:n.-17-3160C>G | |
| XM_011543482.1:c.-17-3160C>G | XP_011541784.1:n.-17-3160C>G | |
| XM_011543483.1:c.-17-3160C>G | XP_011541785.1:n.-17-3160C>G | |
| XM_011543484.1:c.-13-3164C>G | XP_011541786.1:n.-13-3164C>G | |
| XM_011543485.1:c.-17-3160C>G | XP_011541787.1:n.-17-3160C>G | |
| XM_011543486.1:c.-17-3160C>G | XP_011541788.1:n.-17-3160C>G | |
| XM_011543487.1:c.-17-3160C>G | XP_011541789.1:n.-17-3160C>G | |
| NM_001040458.2:c.-18+757C>G | NP_001035548.1:n.-18+757C>G | |
| NM_001198541.2:c.-17-3160C>G | NP_001185470.1:n.-17-3160C>G | |
| NM_001349244.1:c.-14+757C>G | NP_001336173.1:n.-14+757C>G | |
| NM_016442.4:c.-18+757C>G | NP_057526.3:n.-18+757C>G | |
| XM_005272015.5:c.-18+757C>G | XP_005272072.1:n.-18+757C>G | |
| XM_005272016.4:c.-14+757C>G | XP_005272073.1:n.-14+757C>G | |
| XM_011543480.2:c.-17-3160C>G | XP_011541782.1:n.-17-3160C>G | |
| XM_011543481.2:c.-17-3160C>G | XP_011541783.1:n.-17-3160C>G | |
| XM_011543484.2:c.-13-3164C>G | XP_011541786.1:n.-13-3164C>G | |
| XM_011543485.2:c.-17-3160C>G | XP_011541787.1:n.-17-3160C>G | |
| XM_011543486.3:c.-17-3160C>G | XP_011541788.1:n.-17-3160C>G | |
| XM_017009581.1:c.-17-3160C>G | XP_016865070.1:n.-17-3160C>G | |
| XM_017009583.2:c.-1060+757C>G | XP_016865072.1:n.-1060+757C>G | |
| XM_024446113.1:c.-17-3160C>G | XP_024301881.1:n.-17-3160C>G | |
| XR_001742119.2:n.276+757C>G | ||
| NM_001040458.3:c.-18+757C>G MANE Select | NP_001035548.1:n.-18+757C>G | |
| NM_001198541.3:c.-17-3160C>G | NP_001185470.1:n.-17-3160C>G | |
| NM_001349244.2:c.-14+757C>G | NP_001336173.1:n.-14+757C>G | |
| NM_016442.5:c.-18+757C>G | NP_057526.3:n.-18+757C>G |