Linked Data
ClinVar Variation Id:
127390
ClinVar RCV Id:
RCV000115195
RCV000206408
RCV000515407
RCV000588453
RCV001257473
RCV002225319
RCV002509222
RCV003492458
dbSNP Id:
rs539676759
ExAC:
11:108160506 T / G
gnomAD v2:
11-108160506-T-G
gnomAD v3:
11-108289779-T-G
gnomAD v4:
11-108289779-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108289779T>G , CM000673.2:g.108289779T>G | GRCh38 |
| NC_000011.9:g.108160506T>G , CM000673.1:g.108160506T>G | GRCh37 |
| NC_000011.8:g.107665716T>G | NCBI36 |
| NG_009830.1:g.71948T>G , LRG_135:g.71948T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.4414T>G | ENSP00000388058.2:p.Leu1472Val | |
| ENST00000713593.1:c.*3885T>G | ENSP00000518889.1:n.*3885T>G | |
| ENST00000278616.9:c.4414T>G | ENSP00000278616.4:p.Leu1472Val | |
| ENST00000533733.6:n.1677T>G | ||
| ENST00000683174.1:n.4564T>G | ||
| ENST00000527805.6:c.4414T>G | ENSP00000435747.2:p.Leu1472Val | |
| ENST00000675595.1:c.4249T>G | ENSP00000502563.1:p.Leu1417Val | |
| ENST00000675843.1:c.4414T>G MANE Select | ENSP00000501606.1:p.Leu1472Val | |
| ENST00000278616.8:c.4414T>G | ENSP00000278616.4:p.Leu1472Val | |
| ENST00000452508.6:c.4414T>G | ENSP00000388058.2:p.Leu1472Val | |
| ENST00000524792.5:n.629T>G | ||
| ENST00000531525.2:c.421T>G | ENSP00000434327.2:p.Leu141Val | |
| ENST00000533733.5:n.843T>G | ||
| NM_000051.3:c.4414T>G , LRG_135t1:c.4414T>G | NP_000042.3:p.Leu1472Val | |
| XM_005271561.3:c.4414T>G | XP_005271618.2:p.Leu1472Val | |
| XM_005271562.3:c.4414T>G | XP_005271619.2:p.Leu1472Val | |
| XM_006718843.2:c.4414T>G | XP_006718906.1:p.Leu1472Val | |
| XM_006718845.1:c.370T>G | XP_006718908.1:p.Leu124Val | |
| XM_011542840.1:c.4414T>G | XP_011541142.1:p.Leu1472Val | |
| XM_011542841.1:c.4414T>G | XP_011541143.1:p.Leu1472Val | |
| XM_011542842.1:c.4249T>G | XP_011541144.1:p.Leu1417Val | |
| XM_011542843.1:c.4414T>G | XP_011541145.1:p.Leu1472Val | |
| XM_011542844.1:c.3370T>G | XP_011541146.1:p.Leu1124Val | |
| XM_011542845.1:c.3106T>G | XP_011541147.1:p.Leu1036Val | |
| XM_011542846.1:c.4414T>G | XP_011541148.1:p.Leu1472Val | |
| NM_001351834.1:c.4414T>G | NP_001338763.1:p.Leu1472Val | |
| XM_005271562.5:c.4414T>G | XP_005271619.2:p.Leu1472Val | |
| XM_006718843.4:c.4414T>G | XP_006718906.1:p.Leu1472Val | |
| XM_006718845.2:c.370T>G | XP_006718908.1:p.Leu124Val | |
| XM_011542840.3:c.4414T>G | XP_011541142.1:p.Leu1472Val | |
| XM_011542842.3:c.4249T>G | XP_011541144.1:p.Leu1417Val | |
| XM_011542843.2:c.4414T>G | XP_011541145.1:p.Leu1472Val | |
| XM_011542844.3:c.3370T>G | XP_011541146.1:p.Leu1124Val | |
| XM_011542845.2:c.3106T>G | XP_011541147.1:p.Leu1036Val | |
| XM_017017789.2:c.4414T>G | XP_016873278.1:p.Leu1472Val | |
| XM_017017790.2:c.4414T>G | XP_016873279.1:p.Leu1472Val | |
| XM_017017791.1:c.4414T>G | XP_016873280.1:p.Leu1472Val | |
| XM_017017792.2:c.4414T>G | XP_016873281.1:p.Leu1472Val | |
| XR_002957150.1:n.5147T>G | ||
| NM_001351834.2:c.4414T>G | NP_001338763.1:p.Leu1472Val | |
| NM_000051.4:c.4414T>G MANE Select | NP_000042.3:p.Leu1472Val |