Linked Data
dbSNP Id:
rs777696937
ExAC:
20:13782323 G / A
gnomAD v2:
20-13782323-G-A
gnomAD v4:
20-13801677-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13801677G>A , CM000682.2:g.13801677G>A | GRCh38 |
| NC_000020.10:g.13782323G>A , CM000682.1:g.13782323G>A | GRCh37 |
| NC_000020.9:g.13730323G>A | NCBI36 |
| NG_015811.1:g.21652G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378106.10:c.711G>A MANE Select | ENSP00000367346.5:p.Leu237= | |
| ENST00000378081.9:c.711G>A | ENSP00000437325.1:p.Leu237= | |
| ENST00000378106.9:c.711G>A | ENSP00000367346.5:p.Leu237= | |
| ENST00000463598.1:c.627G>A | ENSP00000420497.1:p.Leu209= | |
| ENST00000464269.5:n.384G>A | ||
| ENST00000475968.5:n.588G>A | ||
| ENST00000476124.1:n.110G>A | ||
| ENST00000476536.5:n.671G>A | ||
| ENST00000477732.5:n.502+3177G>A | ||
| ENST00000479716.5:n.232G>A | ||
| ENST00000481249.5:n.588G>A | ||
| ENST00000485738.5:n.688G>A | ||
| ENST00000487478.5:n.135G>A | ||
| NM_001039375.2:c.627G>A | NP_001034464.1:p.Leu209= | |
| NM_024120.4:c.711G>A | NP_077025.2:p.Leu237= | |
| NR_029377.1:n.754G>A | ||
| XM_006723620.2:c.711G>A | XP_006723683.1:p.Leu237= | |
| XM_006723622.2:c.240G>A | XP_006723685.1:p.Leu80= | |
| XM_006723623.1:c.240G>A | XP_006723686.1:p.Leu80= | |
| XM_006723624.1:c.240G>A | XP_006723687.1:p.Leu80= | |
| XM_011529341.1:c.711G>A | XP_011527643.1:p.Leu237= | |
| XM_011529342.1:c.711G>A | XP_011527644.1:p.Leu237= | |
| XM_011529343.1:c.711G>A | XP_011527645.1:p.Leu237= | |
| XM_011529344.1:c.342G>A | XP_011527646.1:p.Leu114= | |
| XR_430269.2:n.731G>A | ||
| XR_937140.1:n.731G>A | ||
| NM_001352403.1:c.240G>A | NP_001339332.1:p.Leu80= | |
| NM_001352406.1:c.150G>A | NP_001339335.1:p.Leu50= | |
| NM_001352407.1:c.150G>A | NP_001339336.1:p.Leu50= | |
| NM_001352408.1:c.711G>A | NP_001339337.1:p.Leu237= | |
| NR_147978.1:n.754G>A | ||
| NR_147979.1:n.774G>A | ||
| NR_147980.1:n.650G>A | ||
| NR_147981.1:n.888G>A | ||
| NR_147982.1:n.888G>A | ||
| NR_147983.1:n.804G>A | ||
| XM_006723624.2:c.240G>A | XP_006723687.1:p.Leu80= | |
| XM_011529342.2:c.711G>A | XP_011527644.1:p.Leu237= | |
| XM_024451999.1:c.240G>A | XP_024307767.1:p.Leu80= | |
| XR_001754396.1:n.670G>A | ||
| XR_430269.3:n.731G>A | ||
| XR_937140.2:n.731G>A | ||
| NM_024120.5:c.711G>A MANE Select | NP_077025.2:p.Leu237= | |
| NM_001039375.3:c.627G>A | NP_001034464.1:p.Leu209= | |
| NM_001352403.2:c.240G>A | NP_001339332.1:p.Leu80= | |
| NM_001352406.2:c.150G>A | NP_001339335.1:p.Leu50= | |
| NM_001352407.2:c.150G>A | NP_001339336.1:p.Leu50= | |
| NR_029377.2:n.752G>A | ||
| NR_147978.2:n.752G>A | ||
| NR_147979.2:n.772G>A | ||
| NR_147980.2:n.648G>A | ||
| NR_147981.2:n.886G>A | ||
| NR_147982.2:n.886G>A | ||
| NR_147983.2:n.802G>A | ||
| NM_001352408.2:c.711G>A | NP_001339337.1:p.Leu237= |