Linked Data
ClinVar Variation Id:
619071
ClinVar RCV Id:
RCV000766172
dbSNP Id:
rs747203537
ExAC:
12:53823754 T / G
gnomAD v2:
12-53823754-T-G
gnomAD v4:
12-53429970-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53429970T>G , CM000674.2:g.53429970T>G | GRCh38 |
| NC_000012.11:g.53823754T>G , CM000674.1:g.53823754T>G | GRCh37 |
| NC_000012.10:g.52110021T>G | NCBI36 |
| NG_015981.1:g.11116T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257863.9:c.1280T>G MANE Select | ENSP00000257863.3:p.Leu427Trp | |
| ENST00000257863.8:c.1280T>G | ENSP00000257863.3:p.Leu427Trp | |
| ENST00000379791.7:c.1140+345T>G | ENSP00000369117.3:n.1140+345T>G | |
| ENST00000550311.5:c.1280T>G | ENSP00000446661.1:p.Leu427Trp | |
| ENST00000550839.1:c.371T>G | ENSP00000455338.1:p.Leu124Trp | |
| ENST00000552233.5:n.868T>G | ||
| NM_001164690.1:c.1280T>G | NP_001158162.1:p.Leu427Trp | |
| NM_001164691.1:c.1140+345T>G | NP_001158163.1:n.1140+345T>G | |
| NM_020547.2:c.1280T>G | NP_065434.1:p.Leu427Trp | |
| XM_011538173.1:c.1340T>G | XP_011536475.1:p.Leu447Trp | |
| XM_011538174.1:c.1337T>G | XP_011536476.1:p.Leu446Trp | |
| XM_011538175.1:c.1322T>G | XP_011536477.1:p.Leu441Trp | |
| XM_011538176.1:c.1283T>G | XP_011536478.1:p.Leu428Trp | |
| XM_011538177.1:c.1262T>G | XP_011536479.1:p.Leu421Trp | |
| XM_011538178.1:c.1121T>G | XP_011536480.1:p.Leu374Trp | |
| XM_011538179.1:c.1200+345T>G | XP_011536481.1:n.1200+345T>G | |
| XM_011538180.1:c.1007T>G | XP_011536482.1:p.Leu336Trp | |
| XM_011538181.1:c.1004T>G | XP_011536483.1:p.Leu335Trp | |
| XM_011538182.1:c.929T>G | XP_011536484.1:p.Leu310Trp | |
| XM_011538183.1:c.1201-176T>G | XP_011536485.1:n.1201-176T>G | |
| XM_011538184.1:c.1220+325T>G | XP_011536486.1:n.1220+325T>G | |
| XM_011538185.1:c.856-1207T>G | XP_011536487.1:n.856-1207T>G | |
| XM_011538186.1:c.455T>G | XP_011536488.1:p.Leu152Trp | |
| NM_001164690.2:c.1280T>G | NP_001158162.1:p.Leu427Trp | |
| NM_001164691.2:c.1140+345T>G | NP_001158163.1:n.1140+345T>G | |
| NM_020547.3:c.1280T>G MANE Select | NP_065434.1:p.Leu427Trp | |
| XM_011538183.2:c.1201-176T>G | XP_011536485.1:n.1201-176T>G | |
| XM_011538184.2:c.1220+325T>G | XP_011536486.1:n.1220+325T>G | |
| XM_011538186.3:c.455T>G | XP_011536488.1:p.Leu152Trp | |
| XM_017019179.2:c.1340T>G | XP_016874668.1:p.Leu447Trp | |
| XM_024448938.1:c.1143+345T>G | XP_024304706.1:n.1143+345T>G | |
| XR_002957309.1:n.1248T>G | ||
| XR_002957310.1:n.1109-176T>G | ||
| XR_002957311.1:n.1248T>G | ||
| XR_002957312.1:n.1108+345T>G |