Linked Data
ClinVar Variation Id:
972923
ClinVar RCV Id:
RCV001249209
dbSNP Id:
rs200756131
ExAC:
20:13782174 A / G
gnomAD v2:
20-13782174-A-G
gnomAD v3:
20-13801528-A-G
gnomAD v4:
20-13801528-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13801528A>G , CM000682.2:g.13801528A>G | GRCh38 |
| NC_000020.10:g.13782174A>G , CM000682.1:g.13782174A>G | GRCh37 |
| NC_000020.9:g.13730174A>G | NCBI36 |
| NG_015811.1:g.21503A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378106.10:c.562A>G MANE Select | ENSP00000367346.5:p.Met188Val | |
| ENST00000378081.9:c.562A>G | ENSP00000437325.1:p.Met188Val | |
| ENST00000378106.9:c.562A>G | ENSP00000367346.5:p.Met188Val | |
| ENST00000463598.1:c.478A>G | ENSP00000420497.1:p.Met160Val | |
| ENST00000464269.5:n.235A>G | ||
| ENST00000475968.5:n.439A>G | ||
| ENST00000476536.5:n.522A>G | ||
| ENST00000477732.5:n.502+3028A>G | ||
| ENST00000479716.5:n.83A>G | ||
| ENST00000481249.5:n.439A>G | ||
| ENST00000485738.5:n.539A>G | ||
| NM_001039375.2:c.478A>G | NP_001034464.1:p.Met160Val | |
| NM_024120.4:c.562A>G | NP_077025.2:p.Met188Val | |
| NR_029377.1:n.605A>G | ||
| XM_006723620.2:c.562A>G | XP_006723683.1:p.Met188Val | |
| XM_006723622.2:c.91A>G | XP_006723685.1:p.Met31Val | |
| XM_006723623.1:c.91A>G | XP_006723686.1:p.Met31Val | |
| XM_006723624.1:c.91A>G | XP_006723687.1:p.Met31Val | |
| XM_011529341.1:c.562A>G | XP_011527643.1:p.Met188Val | |
| XM_011529342.1:c.562A>G | XP_011527644.1:p.Met188Val | |
| XM_011529343.1:c.562A>G | XP_011527645.1:p.Met188Val | |
| XM_011529344.1:c.193A>G | XP_011527646.1:p.Met65Val | |
| XR_430269.2:n.582A>G | ||
| XR_937140.1:n.582A>G | ||
| NM_001352403.1:c.91A>G | NP_001339332.1:p.Met31Val | |
| NM_001352406.1:c.1A>G | NP_001339335.1:p.Met1Val | |
| NM_001352407.1:c.1A>G | NP_001339336.1:p.Met1Val | |
| NM_001352408.1:c.562A>G | NP_001339337.1:p.Met188Val | |
| NR_147978.1:n.605A>G | ||
| NR_147979.1:n.625A>G | ||
| NR_147980.1:n.501A>G | ||
| NR_147981.1:n.739A>G | ||
| NR_147982.1:n.739A>G | ||
| NR_147983.1:n.655A>G | ||
| XM_006723624.2:c.91A>G | XP_006723687.1:p.Met31Val | |
| XM_011529342.2:c.562A>G | XP_011527644.1:p.Met188Val | |
| XM_024451999.1:c.91A>G | XP_024307767.1:p.Met31Val | |
| XR_001754396.1:n.521A>G | ||
| XR_430269.3:n.582A>G | ||
| XR_937140.2:n.582A>G | ||
| NM_024120.5:c.562A>G MANE Select | NP_077025.2:p.Met188Val | |
| NM_001039375.3:c.478A>G | NP_001034464.1:p.Met160Val | |
| NM_001352403.2:c.91A>G | NP_001339332.1:p.Met31Val | |
| NM_001352406.2:c.1A>G | NP_001339335.1:p.Met1Val | |
| NM_001352407.2:c.1A>G | NP_001339336.1:p.Met1Val | |
| NR_029377.2:n.603A>G | ||
| NR_147978.2:n.603A>G | ||
| NR_147979.2:n.623A>G | ||
| NR_147980.2:n.499A>G | ||
| NR_147981.2:n.737A>G | ||
| NR_147982.2:n.737A>G | ||
| NR_147983.2:n.653A>G | ||
| NM_001352408.2:c.562A>G | NP_001339337.1:p.Met188Val |