Linked Data
ClinVar Variation Id:
143993
ClinVar RCV Id:
RCV000133508
dbSNP Id:
rs587777626
gnomAD v2:
16-919908-C-T
gnomAD v3:
16-869908-C-T
gnomAD v4:
16-869908-C-T
PubMed:
PMID:19820022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.869908C>T , CM000678.2:g.869908C>T | GRCh38 |
| NC_000016.9:g.919908C>T , CM000678.1:g.919908C>T | GRCh37 |
| NC_000016.8:g.859909C>T | NCBI36 |
| NG_021286.1:g.116411G>A | |
| NG_021286.2:g.116708G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262301.16:c.1391G>A MANE Select | ENSP00000262301.12:p.Trp464Ter | |
| ENST00000262301.15:c.1391G>A | ENSP00000262301.11:p.Trp464Ter | |
| ENST00000543238.5:c.680G>A | ENSP00000437418.1:p.Trp227Ter | |
| ENST00000545827.6:c.*928G>A | ENSP00000443820.2:n.*928G>A | |
| ENST00000568897.5:c.740G>A | ENSP00000458135.1:p.Trp247Ter | |
| ENST00000569516.5:n.3013G>A | ||
| ENST00000570168.1:n.180G>A | ||
| NM_022773.2:c.1391G>A | NP_073610.2:p.Trp464Ter | |
| NR_033645.1:n.1524G>A | ||
| NR_033646.1:n.1702G>A | ||
| XM_006720926.2:c.1217G>A | XP_006720989.1:p.Trp406Ter | |
| XM_006720928.1:c.1064G>A | XP_006720991.1:p.Trp355Ter | |
| XM_006720929.2:c.992G>A | XP_006720992.1:p.Trp331Ter | |
| XM_011522614.1:c.1391G>A | XP_011520916.1:p.Trp464Ter | |
| XM_011522616.1:c.947G>A | XP_011520918.1:p.Trp316Ter | |
| XM_011522617.1:c.740G>A | XP_011520919.1:p.Trp247Ter | |
| XR_429646.2:n.1562G>A | ||
| XR_932903.1:n.1393G>A | ||
| XR_932904.1:n.1393G>A | ||
| NM_001352017.1:c.740G>A | NP_001338946.1:p.Trp247Ter | |
| NM_001352018.1:c.992G>A | NP_001338947.1:p.Trp331Ter | |
| NM_001352019.1:c.1064G>A | NP_001338948.1:p.Trp355Ter | |
| NM_001352020.1:c.1336+55G>A | NP_001338949.1:n.1336+55G>A | |
| NM_001352021.1:c.740G>A | NP_001338950.1:p.Trp247Ter | |
| NM_022773.3:c.1391G>A | NP_073610.2:p.Trp464Ter | |
| NR_147885.1:n.1410G>A | ||
| XM_006720929.4:c.992G>A | XP_006720992.1:p.Trp331Ter | |
| XM_011522614.3:c.1391G>A | XP_011520916.1:p.Trp464Ter | |
| XM_011522617.2:c.740G>A | XP_011520919.1:p.Trp247Ter | |
| XM_017023575.2:c.1391G>A | XP_016879064.1:p.Trp464Ter | |
| XM_017023576.1:c.1157G>A | XP_016879065.1:p.Trp386Ter | |
| XM_017023578.1:c.755G>A | XP_016879067.1:p.Trp252Ter | |
| XM_017023580.1:c.740G>A | XP_016879069.1:p.Trp247Ter | |
| XM_024450396.1:c.1064G>A | XP_024306164.1:p.Trp355Ter | |
| XM_024450397.1:c.740G>A | XP_024306165.1:p.Trp247Ter | |
| XR_001751966.2:n.1563G>A | ||
| XR_002957835.1:n.3297G>A | ||
| XR_429646.4:n.1563G>A | ||
| XR_932903.3:n.1394G>A | ||
| NM_001352017.2:c.740G>A | NP_001338946.1:p.Trp247Ter | |
| NM_001352018.2:c.992G>A | NP_001338947.1:p.Trp331Ter | |
| NM_001352019.2:c.1064G>A | NP_001338948.1:p.Trp355Ter | |
| NM_001352021.2:c.740G>A | NP_001338950.1:p.Trp247Ter | |
| NM_022773.4:c.1391G>A MANE Select | NP_073610.2:p.Trp464Ter | |
| NR_147885.2:n.1395G>A |