Linked Data
ClinVar Variation Id:
762929
dbSNP Id:
rs747871581
ExAC:
6:116752139 A / G
gnomAD v2:
6-116752139-A-G
gnomAD v4:
6-116430976-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116430976A>G , CM000668.2:g.116430976A>G | GRCh38 |
| NC_000006.11:g.116752139A>G , CM000668.1:g.116752139A>G | GRCh37 |
| NC_000006.10:g.116858832A>G | NCBI36 |
| NG_033266.1:g.155857A>G | |
| NG_033266.3:g.181825A>G | |
| NG_033266.4:g.181806A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359564.3:c.693A>G | ENSP00000352567.3:p.Leu231= | |
| ENST00000644252.3:c.693A>G MANE Select | ENSP00000494147.2:p.Leu231= | |
| ENST00000644499.1:c.549A>G | ENSP00000495266.1:p.Leu183= | |
| ENST00000646710.1:c.670+4149A>G | ENSP00000495970.1:n.670+4149A>G | |
| ENST00000647244.1:c.670+4149A>G | ENSP00000495184.1:n.670+4149A>G | |
| ENST00000331677.7:c.693A>G | ENSP00000332151.2:p.Leu231= | |
| ENST00000359564.2:c.693A>G | ENSP00000352567.2:p.Leu231= | |
| ENST00000452085.7:c.693A>G | ENSP00000404049.2:p.Leu231= | |
| NM_001080976.1:c.693A>G | NP_001074445.1:p.Leu231= | |
| NM_013352.2:c.693A>G | NP_037484.1:p.Leu231= | |
| XM_011535785.1:c.83+4149A>G | XP_011534087.1:n.83+4149A>G | |
| NM_001080976.2:c.693A>G | NP_001074445.1:p.Leu231= | |
| NM_001322937.1:c.693A>G | NP_001309866.1:p.Leu231= | |
| NM_001322938.1:c.693A>G | NP_001309867.1:p.Leu231= | |
| NM_001322939.1:c.750A>G | NP_001309868.1:p.Leu250= | |
| NM_001322940.1:c.132A>G | NP_001309869.1:p.Leu44= | |
| NM_001322941.1:c.132A>G | NP_001309870.1:p.Leu44= | |
| NM_001322943.1:c.670+4149A>G | NP_001309872.1:n.670+4149A>G | |
| NM_001322944.1:c.693A>G | NP_001309873.1:p.Leu231= | |
| NM_013352.3:c.693A>G | NP_037484.1:p.Leu231= | |
| NR_136524.1:n.940A>G | ||
| XM_017010795.1:c.750A>G | XP_016866284.1:p.Leu250= | |
| XM_017010796.1:c.693A>G | XP_016866285.1:p.Leu231= | |
| XM_017010797.1:c.750A>G | XP_016866286.1:p.Leu250= | |
| NM_001080976.3:c.693A>G | NP_001074445.1:p.Leu231= | |
| NM_001322937.2:c.693A>G | NP_001309866.1:p.Leu231= | |
| NM_001322938.2:c.693A>G | NP_001309867.1:p.Leu231= | |
| NM_001322939.2:c.750A>G | NP_001309868.1:p.Leu250= | |
| NM_001322940.2:c.132A>G | NP_001309869.1:p.Leu44= | |
| NM_001322941.2:c.132A>G | NP_001309870.1:p.Leu44= | |
| NM_001322943.2:c.670+4149A>G | NP_001309872.1:n.670+4149A>G | |
| NM_001322944.2:c.693A>G | NP_001309873.1:p.Leu231= | |
| NM_001374520.1:c.-171A>G | NP_001361449.1:n.-171A>G | |
| NM_001374521.1:c.83+4149A>G | NP_001361450.1:n.83+4149A>G | |
| NM_001374522.1:c.693A>G | NP_001361451.1:p.Leu231= | |
| NM_013352.4:c.693A>G MANE Select | NP_037484.1:p.Leu231= | |
| NR_136524.2:n.917A>G |