Linked Data
ClinVar Variation Id:
435094
dbSNP Id:
rs756235299
ExAC:
19:44015600 T / C
gnomAD v2:
19-44015600-T-C
gnomAD v3:
19-43511448-T-C
gnomAD v4:
19-43511448-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43511448T>C , CM000681.2:g.43511448T>C | GRCh38 |
| NC_000019.9:g.44015600T>C , CM000681.1:g.44015600T>C | GRCh37 |
| NC_000019.8:g.48707440T>C | NCBI36 |
| NG_008141.1:g.20797A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.494A>G MANE Select | ENSP00000292147.1:p.Asp165Gly | |
| ENST00000292147.6:c.494A>G | ENSP00000292147.1:p.Asp165Gly | |
| ENST00000594342.5:c.*57A>G | ENSP00000469652.1:n.*57A>G | |
| ENST00000598330.1:c.*57A>G | ENSP00000469219.1:n.*57A>G | |
| ENST00000600651.5:c.494A>G | ENSP00000469037.1:p.Asp165Gly | |
| NM_014297.3:c.494A>G | NP_055112.2:p.Asp165Gly | |
| XM_005258687.2:c.413A>G | XP_005258744.1:p.Asp138Gly | |
| XM_005258688.2:c.125A>G | XP_005258745.1:p.Asp42Gly | |
| XM_011526685.1:c.227-2584A>G | XP_011524987.1:n.227-2584A>G | |
| NM_001320867.1:c.461A>G | NP_001307796.1:p.Asp154Gly | |
| NM_001320868.1:c.125A>G | NP_001307797.1:p.Asp42Gly | |
| NM_001320869.1:c.200A>G | NP_001307798.1:p.Asp67Gly | |
| NM_014297.4:c.494A>G | NP_055112.2:p.Asp165Gly | |
| XM_005258687.4:c.413A>G | XP_005258744.1:p.Asp138Gly | |
| NM_014297.5:c.494A>G MANE Select | NP_055112.2:p.Asp165Gly | |
| NM_001320867.2:c.461A>G | NP_001307796.1:p.Asp154Gly | |
| NM_001320868.2:c.125A>G | NP_001307797.1:p.Asp42Gly | |
| NM_001320869.2:c.200A>G | NP_001307798.1:p.Asp67Gly |