Linked Data
ClinVar Variation Id:
262745
dbSNP Id:
rs886038738
gnomAD v2:
8-94821076-G-A
gnomAD v3:
8-93808848-G-A
gnomAD v4:
8-93808848-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93808848G>A , CM000670.2:g.93808848G>A | GRCh38 |
| NC_000008.10:g.94821076G>A , CM000670.1:g.94821076G>A | GRCh37 |
| NC_000008.9:g.94890252G>A | NCBI36 |
| NG_009190.1:g.59005G>A , LRG_688:g.59005G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2448G>A | ENSP00000314488.4:p.Leu816= | |
| ENST00000409623.8:c.2403G>A | ENSP00000386966.4:p.Leu801= | |
| ENST00000452276.6:c.2331G>A | ENSP00000388671.2:p.Leu777= | |
| ENST00000453906.6:c.1566G>A | ENSP00000403035.2:p.Leu522= | |
| ENST00000518896.2:c.739G>A | ENSP00000507992.1:n.739G>A | |
| ENST00000520680.2:c.2571G>A | ENSP00000428785.2:p.Leu857= | |
| ENST00000521517.6:c.2349G>A | ENSP00000430740.2:p.Leu783= | |
| ENST00000681998.1:c.2269G>A | ENSP00000506773.1:n.2269G>A | |
| ENST00000682036.1:c.1689G>A | ENSP00000508390.1:p.Leu563= | |
| ENST00000682577.1:c.2221G>A | ENSP00000506963.1:n.2221G>A | |
| ENST00000682624.1:c.*2022G>A | ENSP00000508343.1:n.*2022G>A | |
| ENST00000682700.1:c.2448G>A | ENSP00000507627.1:p.Leu816= | |
| ENST00000682744.1:n.1986G>A | ||
| ENST00000682804.1:n.2271G>A | ||
| ENST00000682837.1:c.1937G>A | ENSP00000507920.1:n.1937G>A | |
| ENST00000682935.1:n.4498G>A | ||
| ENST00000682984.1:c.2109G>A | ENSP00000507209.1:p.Leu703= | |
| ENST00000683078.1:c.2203G>A | ENSP00000506796.1:n.2203G>A | |
| ENST00000683223.1:c.2180G>A | ENSP00000507685.1:n.2180G>A | |
| ENST00000683238.1:n.3672G>A | ||
| ENST00000683249.1:n.4045G>A | ||
| ENST00000683336.1:c.2269G>A | ENSP00000507695.1:n.2269G>A | |
| ENST00000683362.1:c.2109G>A | ENSP00000506985.1:p.Leu703= | |
| ENST00000683850.1:n.2371G>A | ||
| ENST00000683919.1:c.2378G>A | ENSP00000507617.1:n.2378G>A | |
| ENST00000683953.1:c.2359G>A | ENSP00000508375.1:n.2359G>A | |
| ENST00000684023.1:c.2425G>A | ENSP00000507461.1:n.2425G>A | |
| ENST00000684064.1:c.2139G>A | ENSP00000508192.1:p.Leu713= | |
| ENST00000684089.1:n.3998G>A | ||
| ENST00000684149.1:c.*1627G>A | ENSP00000507943.1:n.*1627G>A | |
| ENST00000684343.1:c.645G>A | ENSP00000507591.1:p.Leu215= | |
| ENST00000684416.1:n.2407G>A | ||
| ENST00000684540.1:c.2378G>A | ENSP00000507987.1:n.2378G>A | |
| ENST00000453321.8:c.2448G>A MANE Select | ENSP00000389998.3:p.Leu816= | |
| ENST00000323130.7:c.2418G>A | ENSP00000314488.3:p.Leu806= | |
| ENST00000409623.7:c.2205G>A | ENSP00000386966.3:p.Leu735= | |
| ENST00000453321.7:c.2448G>A | ENSP00000389998.3:p.Leu816= | |
| ENST00000474944.5:n.1586G>A | ||
| ENST00000519845.5:n.1180G>A | ||
| NM_001142301.1:c.2205G>A , LRG_688t2:c.2205G>A | NP_001135773.1:p.Leu735= | |
| NM_153704.5:c.2448G>A , LRG_688t1:c.2448G>A | NP_714915.3:p.Leu816= | |
| NR_024522.1:n.2519G>A | ||
| XM_006716686.2:c.2145G>A | XP_006716749.1:p.Leu715= | |
| XM_006716687.2:c.1848G>A | XP_006716750.1:p.Leu616= | |
| XM_011517363.1:c.1566G>A | XP_011515665.1:p.Leu522= | |
| XR_428387.1:n.2506G>A | ||
| XR_928360.1:n.2506G>A | ||
| XR_928361.1:n.2506G>A | ||
| XR_928362.1:n.2506G>A | ||
| XM_006716686.4:c.2145G>A | XP_006716749.1:p.Leu715= | |
| XM_011517363.3:c.1566G>A | XP_011515665.1:p.Leu522= | |
| XM_024447326.1:c.1794G>A | XP_024303094.1:p.Leu598= | |
| XR_001745619.2:n.2489G>A | ||
| XR_428387.2:n.2489G>A | ||
| XR_928360.3:n.2489G>A | ||
| XR_928362.3:n.2489G>A | ||
| NM_153704.6:c.2448G>A MANE Select | NP_714915.3:p.Leu816= | |
| NR_024522.2:n.2469G>A |