Linked Data
ClinVar Variation Id:
45665
dbSNP Id:
rs35258467
ExAC:
9:117168825 C / G
gnomAD v2:
9-117168825-C-G
gnomAD v3:
9-114406545-C-G
gnomAD v4:
9-114406545-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114406545C>G , CM000671.2:g.114406545C>G | GRCh38 |
| NC_000009.11:g.117168825C>G , CM000671.1:g.117168825C>G | GRCh37 |
| NC_000009.10:g.116208646C>G | NCBI36 |
| NG_016700.1:g.103912G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.390G>C | ENSP00000514396.1:p.Arg130= | |
| ENST00000362057.4:c.2046G>C MANE Select | ENSP00000354623.3:p.Arg682= | |
| ENST00000674036.8:c.1019G>C | ||
| ENST00000674048.1:n.1927G>C | ||
| ENST00000265134.10:c.897G>C | ENSP00000265134.6:p.Arg299= | |
| ENST00000362057.3:c.2046G>C | ENSP00000354623.3:p.Arg682= | |
| ENST00000374059.7:c.993G>C | ENSP00000363172.3:p.Arg331= | |
| NM_001083885.2:c.897G>C | NP_001077354.2:p.Arg299= | |
| NM_001173425.1:c.2046G>C | NP_001166896.1:p.Arg682= | |
| NM_015404.3:c.2046G>C | NP_056219.3:p.Arg682= | |
| XM_005251897.3:c.1383G>C | XP_005251954.2:p.Arg461= | |
| XM_011518484.1:c.2079G>C | XP_011516786.1:p.Arg693= | |
| XM_011518485.1:c.2079G>C | XP_011516787.1:p.Arg693= | |
| XM_011518486.1:c.2079G>C | XP_011516788.1:p.Arg693= | |
| XM_011518487.1:c.1953G>C | XP_011516789.1:p.Arg651= | |
| XM_011518488.1:c.1836G>C | XP_011516790.1:p.Arg612= | |
| XM_011518495.1:c.756G>C | XP_011516797.1:p.Arg252= | |
| XR_929747.1:n.2983G>C | ||
| XR_929748.1:n.2881G>C | ||
| NM_001346890.1:c.993G>C | NP_001333819.1:p.Arg331= | |
| XM_011518486.2:c.2079G>C | XP_011516788.1:p.Arg693= | |
| XM_011518487.2:c.1953G>C | XP_011516789.1:p.Arg651= | |
| XM_011518488.2:c.1836G>C | XP_011516790.1:p.Arg612= | |
| XR_929747.2:n.2294G>C | ||
| XR_929748.2:n.2192G>C | ||
| NM_015404.4:c.2046G>C MANE Select | NP_056219.3:p.Arg682= | |
| NM_001173425.2:c.2046G>C | NP_001166896.1:p.Arg682= | |
| NM_001083885.3:c.897G>C | NP_001077354.2:p.Arg299= |