Linked Data
ClinVar Variation Id:
330864
ClinVar RCV Id:
RCV000322907
dbSNP Id:
rs874898
gnomAD v2:
2-113974196-G-C
gnomAD v3:
2-113216619-G-C
gnomAD v4:
2-113216619-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113216619G>C , CM000664.2:g.113216619G>C | GRCh38 |
| NC_000002.11:g.113974196G>C , CM000664.1:g.113974196G>C | GRCh37 |
| NC_000002.10:g.113690667G>C | NCBI36 |
| NG_012384.1:g.67303C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429538.8:c.*1914C>G MANE Select | ENSP00000395498.3:n.*1914C>G | |
| ENST00000681162.1:c.*1886C>G | ENSP00000505425.1:n.*1886C>G | |
| ENST00000263334.9:c.*1914C>G | ENSP00000263334.6:n.*1914C>G | |
| ENST00000263335.11:c.*1991C>G | ENSP00000263335.7:n.*1991C>G | |
| ENST00000348715.9:c.*1991C>G | ENSP00000314750.5:n.*1991C>G | |
| ENST00000397647.7:c.*1991C>G | ENSP00000380768.3:n.*1991C>G | |
| ENST00000429538.7:c.*1914C>G | ENSP00000395498.3:n.*1914C>G | |
| NM_003466.3:c.*1914C>G | NP_003457.1:n.*1914C>G | |
| NM_013952.3:c.*1991C>G | NP_039246.1:n.*1991C>G | |
| NM_013953.3:c.*1991C>G | NP_039247.1:n.*1991C>G | |
| NM_013992.3:c.*1991C>G | NP_054698.1:n.*1991C>G | |
| XM_011511790.1:c.*1914C>G | XP_011510092.1:n.*1914C>G | |
| XM_011511791.1:c.*1991C>G | XP_011510093.1:n.*1991C>G | |
| XM_011511792.1:c.*1991C>G | XP_011510094.1:n.*1991C>G | |
| XM_011511793.1:c.*1914C>G | XP_011510095.1:n.*1914C>G | |
| XM_011511794.1:c.*1914C>G | XP_011510096.1:n.*1914C>G | |
| XR_923021.1:n.3442C>G | ||
| NM_003466.4:c.*1914C>G MANE Select | NP_003457.1:n.*1914C>G | |
| NM_013952.4:c.*1991C>G | NP_039246.1:n.*1991C>G | |
| NM_013953.4:c.*1991C>G | NP_039247.1:n.*1991C>G | |
| NM_013992.4:c.*1991C>G | NP_054698.1:n.*1991C>G |