Linked Data
ClinVar Variation Id:
1595984
dbSNP Id:
rs897283929
gnomAD v3:
1-3839614-C-T
gnomAD v4:
1-3839614-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3839614C>T , CM000663.2:g.3839614C>T | GRCh38 |
| NC_000001.10:g.3756178C>T , CM000663.1:g.3756178C>T | GRCh37 |
| NC_000001.9:g.3746038C>T | NCBI36 |
| NG_046726.1:g.22620G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378230.8:c.729G>A MANE Select | ENSP00000367476.3:p.Leu243= | |
| ENST00000428079.6:c.729G>A | ENSP00000394989.2:p.Leu243= | |
| ENST00000461667.2:c.729G>A | ENSP00000463605.2:p.Leu243= | |
| ENST00000674544.1:c.555G>A | ENSP00000502641.1:p.Leu185= | |
| ENST00000674558.1:c.729G>A | ENSP00000501829.1:p.Leu243= | |
| ENST00000674623.1:c.729G>A | ENSP00000501733.1:p.Leu243= | |
| ENST00000674879.1:n.1066G>A | ||
| ENST00000674985.1:c.729G>A | ENSP00000502482.1:p.Leu243= | |
| ENST00000675108.1:c.*645G>A | ENSP00000502131.1:n.*645G>A | |
| ENST00000675200.1:c.729G>A | ENSP00000502512.1:p.Leu243= | |
| ENST00000675334.1:n.533G>A | ||
| ENST00000675375.1:c.729G>A | ENSP00000502180.1:p.Leu243= | |
| ENST00000675520.1:n.1066G>A | ||
| ENST00000675666.1:c.729G>A | ENSP00000502548.1:p.Leu243= | |
| ENST00000675677.1:c.729G>A | ENSP00000501944.1:p.Leu243= | |
| ENST00000675750.1:c.*232G>A | ENSP00000502342.1:n.*232G>A | |
| ENST00000675966.1:n.957G>A | ||
| ENST00000676009.1:c.729G>A | ENSP00000502246.1:p.Leu243= | |
| ENST00000676052.1:c.747G>A | ENSP00000502793.1:p.Leu249= | |
| ENST00000378230.7:c.729G>A | ENSP00000367476.3:p.Leu243= | |
| ENST00000428079.5:c.555G>A | ENSP00000394989.1:p.Leu185= | |
| ENST00000494653.5:n.1053G>A | ||
| NM_014704.3:c.729G>A | NP_055519.1:p.Leu243= | |
| XM_005244815.3:c.837G>A | XP_005244872.1:p.Leu279= | |
| XM_011542473.1:c.855G>A | XP_011540775.1:p.Leu285= | |
| XM_011542474.1:c.747G>A | XP_011540776.1:p.Leu249= | |
| XM_011542475.1:c.855G>A | XP_011540777.1:p.Leu285= | |
| XM_011542476.1:c.855G>A | XP_011540778.1:p.Leu285= | |
| XM_011542477.1:c.855G>A | XP_011540779.1:p.Leu285= | |
| XM_011542478.1:c.855G>A | XP_011540780.1:p.Leu285= | |
| XM_005244815.4:c.837G>A | XP_005244872.1:p.Leu279= | |
| XM_011542474.3:c.747G>A | XP_011540776.1:p.Leu249= | |
| XM_017002918.2:c.729G>A | XP_016858407.1:p.Leu243= | |
| XM_017002919.2:c.729G>A | XP_016858408.1:p.Leu243= | |
| XM_024451101.1:c.855G>A | XP_024306869.1:p.Leu285= | |
| XM_024451102.1:c.855G>A | XP_024306870.1:p.Leu285= | |
| XM_024451103.1:c.837G>A | XP_024306871.1:p.Leu279= | |
| XM_024451104.1:c.855G>A | XP_024306872.1:p.Leu285= | |
| XM_024451106.1:c.855G>A | XP_024306874.1:p.Leu285= | |
| XM_024451108.1:c.855G>A | XP_024306876.1:p.Leu285= | |
| NM_014704.4:c.729G>A MANE Select | NP_055519.1:p.Leu243= |