Linked Data
dbSNP Id:
rs751248723
ExAC:
5:96122124 C / A
gnomAD v2:
5-96122124-C-A
gnomAD v3:
5-96786420-C-A
gnomAD v4:
5-96786420-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96786420C>A , CM000667.2:g.96786420C>A | GRCh38 |
| NC_000005.9:g.96122124C>A , CM000667.1:g.96122124C>A | GRCh37 |
| NC_000005.8:g.96147880C>A | NCBI36 |
| NG_027839.1:g.32725G>T | |
| NG_027839.2:g.154564G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443439.7:c.1759+50G>T MANE Select | ENSP00000406304.2:n.1759+50G>T | |
| ENST00000296754.7:c.1759+50G>T | ENSP00000296754.3:n.1759+50G>T | |
| ENST00000443439.6:c.1759+50G>T | ENSP00000406304.2:n.1759+50G>T | |
| ENST00000507859.1:n.422+50G>T | ||
| ENST00000514604.5:n.183+50G>T | ||
| NM_001040458.1:c.1759+50G>T | NP_001035548.1:n.1759+50G>T | |
| NM_001198541.1:c.1759+50G>T | NP_001185470.1:n.1759+50G>T | |
| NM_016442.3:c.1759+50G>T | NP_057526.3:n.1759+50G>T | |
| XM_005272015.3:c.1759+50G>T | XP_005272072.1:n.1759+50G>T | |
| XM_005272016.3:c.1759+50G>T | XP_005272073.1:n.1759+50G>T | |
| XM_011543480.1:c.1759+50G>T | XP_011541782.1:n.1759+50G>T | |
| XM_011543481.1:c.1759+50G>T | XP_011541783.1:n.1759+50G>T | |
| XM_011543482.1:c.1759+50G>T | XP_011541784.1:n.1759+50G>T | |
| XM_011543483.1:c.1759+50G>T | XP_011541785.1:n.1759+50G>T | |
| XM_011543484.1:c.1759+50G>T | XP_011541786.1:n.1759+50G>T | |
| XM_011543485.1:c.1759+50G>T | XP_011541787.1:n.1759+50G>T | |
| XM_011543486.1:c.1759+50G>T | XP_011541788.1:n.1759+50G>T | |
| XM_011543487.1:c.1759+50G>T | XP_011541789.1:n.1759+50G>T | |
| NM_001040458.2:c.1759+50G>T | NP_001035548.1:n.1759+50G>T | |
| NM_001198541.2:c.1759+50G>T | NP_001185470.1:n.1759+50G>T | |
| NM_001349244.1:c.1759+50G>T | NP_001336173.1:n.1759+50G>T | |
| NM_016442.4:c.1759+50G>T | NP_057526.3:n.1759+50G>T | |
| XM_005272015.5:c.1759+50G>T | XP_005272072.1:n.1759+50G>T | |
| XM_005272016.4:c.1759+50G>T | XP_005272073.1:n.1759+50G>T | |
| XM_011543480.2:c.1759+50G>T | XP_011541782.1:n.1759+50G>T | |
| XM_011543481.2:c.1759+50G>T | XP_011541783.1:n.1759+50G>T | |
| XM_011543484.2:c.1759+50G>T | XP_011541786.1:n.1759+50G>T | |
| XM_011543485.2:c.1759+50G>T | XP_011541787.1:n.1759+50G>T | |
| XM_011543486.3:c.1759+50G>T | XP_011541788.1:n.1759+50G>T | |
| XM_017009581.1:c.1759+50G>T | XP_016865070.1:n.1759+50G>T | |
| XM_017009583.2:c.664+50G>T | XP_016865072.1:n.664+50G>T | |
| XM_024446113.1:c.1759+50G>T | XP_024301881.1:n.1759+50G>T | |
| XR_001742119.2:n.1897+50G>T | ||
| NM_001040458.3:c.1759+50G>T MANE Select | NP_001035548.1:n.1759+50G>T | |
| NM_001198541.3:c.1759+50G>T | NP_001185470.1:n.1759+50G>T | |
| NM_001349244.2:c.1759+50G>T | NP_001336173.1:n.1759+50G>T | |
| NM_016442.5:c.1759+50G>T | NP_057526.3:n.1759+50G>T |