Linked Data
dbSNP Id:
rs775133859
ExAC:
15:50782712 C / T
gnomAD v2:
15-50782712-C-T
gnomAD v3:
15-50490515-C-T
gnomAD v4:
15-50490515-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50490515C>T , CM000677.2:g.50490515C>T | GRCh38 |
| NC_000015.9:g.50782712C>T , CM000677.1:g.50782712C>T | GRCh37 |
| NC_000015.8:g.48570004C>T | NCBI36 |
| NG_047101.1:g.71139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307179.9:c.2224C>T MANE Select | ENSP00000302239.4:p.Arg742Trp | |
| ENST00000307179.8:c.2224C>T | ENSP00000302239.4:p.Arg742Trp | |
| ENST00000396444.7:c.2224C>T | ENSP00000379721.3:p.Arg742Trp | |
| ENST00000425032.7:c.1906C>T | ENSP00000412682.3:p.Arg636Trp | |
| NM_001128610.2:c.2224C>T | NP_001122082.1:p.Arg742Trp | |
| NM_001283049.1:c.1906C>T | NP_001269978.1:p.Arg636Trp | |
| NM_005154.4:c.2224C>T | NP_005145.3:p.Arg742Trp | |
| XM_006720761.2:c.2224C>T | XP_006720824.1:p.Arg742Trp | |
| XM_006720762.2:c.2137C>T | XP_006720825.1:p.Arg713Trp | |
| XM_011522193.1:c.2224C>T | XP_011520495.1:p.Arg742Trp | |
| XM_011522194.1:c.1552C>T | XP_011520496.1:p.Arg518Trp | |
| XM_006720761.3:c.2224C>T | XP_006720824.1:p.Arg742Trp | |
| XM_006720762.3:c.2137C>T | XP_006720825.1:p.Arg713Trp | |
| XM_011522193.3:c.2224C>T | XP_011520495.1:p.Arg742Trp | |
| XM_017022718.1:c.2137C>T | XP_016878207.1:p.Arg713Trp | |
| XM_017022719.2:c.2137C>T | XP_016878208.1:p.Arg713Trp | |
| XM_017022720.2:c.2137C>T | XP_016878209.1:p.Arg713Trp | |
| XM_017022721.2:c.1654C>T | XP_016878210.1:p.Arg552Trp | |
| XM_017022722.1:c.1654C>T | XP_016878211.1:p.Arg552Trp | |
| XM_024450098.1:c.1654C>T | XP_024305866.1:p.Arg552Trp | |
| NM_005154.5:c.2224C>T MANE Select | NP_005145.3:p.Arg742Trp | |
| NM_001128610.3:c.2224C>T | NP_001122082.1:p.Arg742Trp | |
| NM_001283049.2:c.1906C>T | NP_001269978.1:p.Arg636Trp |