Linked Data
dbSNP Id:
rs780549627
ExAC:
16:48258326 C / A
gnomAD v2:
16-48258326-C-A
gnomAD v3:
16-48224415-C-A
gnomAD v4:
16-48224415-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.48224415C>A , CM000678.2:g.48224415C>A | GRCh38 |
| NC_000016.9:g.48258326C>A , CM000678.1:g.48258326C>A | GRCh37 |
| NC_000016.8:g.46815827C>A | NCBI36 |
| NG_011522.1:g.15763G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356608.7:c.410G>T MANE Select | ENSP00000349017.2:p.Trp137Leu | |
| ENST00000353782.9:c.410G>T | ENSP00000311326.6:p.Trp137Leu | |
| ENST00000356608.6:c.410G>T | ENSP00000349017.2:p.Trp137Leu | |
| ENST00000394747.5:c.410G>T | ENSP00000378230.1:p.Trp137Leu | |
| ENST00000394748.5:c.410G>T | ENSP00000378231.1:p.Trp137Leu | |
| ENST00000567385.5:n.808G>T | ||
| ENST00000569991.1:c.410G>T | ENSP00000456268.1:p.Trp137Leu | |
| NM_032583.3:c.410G>T | NP_115972.2:p.Trp137Leu | |
| NM_033151.3:c.410G>T | NP_149163.2:p.Trp137Leu | |
| NM_145186.2:c.410G>T | NP_660187.1:p.Trp137Leu | |
| XM_011523396.1:c.212G>T | XP_011521698.1:p.Trp71Leu | |
| XM_017023795.2:c.410G>T | XP_016879284.1:p.Trp137Leu | |
| XM_017023796.2:c.410G>T | XP_016879285.1:p.Trp137Leu | |
| XM_017023797.2:c.410G>T | XP_016879286.1:p.Trp137Leu | |
| XM_017023798.2:c.410G>T | XP_016879287.1:p.Trp137Leu | |
| XM_017023799.2:c.410G>T | XP_016879288.1:p.Trp137Leu | |
| XM_017023800.2:c.410G>T | XP_016879289.1:p.Trp137Leu | |
| XM_017023801.2:c.410G>T | XP_016879290.1:p.Trp137Leu | |
| XM_017023803.1:c.410G>T | XP_016879292.1:p.Trp137Leu | |
| XR_001752012.1:n.3088G>T | ||
| NM_001370496.1:c.410G>T | NP_001357425.1:p.Trp137Leu | |
| NM_001370497.1:c.410G>T MANE Select | NP_001357426.1:p.Trp137Leu | |
| NM_032583.4:c.410G>T | NP_115972.2:p.Trp137Leu | |
| NM_033151.4:c.410G>T | NP_149163.2:p.Trp137Leu | |
| NM_145186.3:c.410G>T | NP_660187.1:p.Trp137Leu |