Linked Data
ClinVar Variation Id:
338662
ClinVar RCV Id:
RCV000322658
dbSNP Id:
rs183570240
gnomAD v2:
20-4681300-C-G
gnomAD v3:
20-4700654-C-G
gnomAD v4:
20-4700654-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4700654C>G , CM000682.2:g.4700654C>G | GRCh38 |
| NC_000020.10:g.4681300C>G , CM000682.1:g.4681300C>G | GRCh37 |
| NC_000020.9:g.4629300C>G | NCBI36 |
| NG_009087.1:g.19504C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379440.9:c.*672C>G MANE Select | ENSP00000368752.4:n.*672C>G | |
| ENST00000424424.2:c.*672C>G | ENSP00000411599.2:n.*672C>G | |
| ENST00000457586.2:c.*672C>G | ENSP00000415284.2:n.*672C>G | |
| ENST00000379440.8:c.*672C>G | ENSP00000368752.4:n.*672C>G | |
| ENST00000430350.2:c.*672C>G | ENSP00000399376.2:n.*672C>G | |
| NM_000311.3:c.*672C>G | NP_000302.1:n.*672C>G | |
| NM_001080121.1:c.*672C>G | NP_001073590.1:n.*672C>G | |
| NM_001080122.1:c.*672C>G | NP_001073591.1:n.*672C>G | |
| NM_001080123.1:c.*672C>G | NP_001073592.1:n.*672C>G | |
| NM_001271561.1:c.*1123C>G | NP_001258490.1:n.*1123C>G | |
| NM_183079.2:c.*672C>G | NP_898902.1:n.*672C>G | |
| NM_000311.4:c.*672C>G | NP_000302.1:n.*672C>G | |
| NM_001080121.2:c.*672C>G | NP_001073590.1:n.*672C>G | |
| NM_001080122.2:c.*672C>G | NP_001073591.1:n.*672C>G | |
| NM_001080123.2:c.*672C>G | NP_001073592.1:n.*672C>G | |
| NM_001271561.2:c.*1123C>G | NP_001258490.1:n.*1123C>G | |
| NM_183079.3:c.*672C>G | NP_898902.1:n.*672C>G | |
| NM_000311.5:c.*672C>G MANE Select | NP_000302.1:n.*672C>G | |
| NM_001080121.3:c.*672C>G | NP_001073590.1:n.*672C>G | |
| NM_001080122.3:c.*672C>G | NP_001073591.1:n.*672C>G | |
| NM_001080123.3:c.*672C>G | NP_001073592.1:n.*672C>G | |
| NM_001271561.3:c.*1123C>G | NP_001258490.1:n.*1123C>G | |
| NM_183079.4:c.*672C>G | NP_898902.1:n.*672C>G |