Linked Data
ClinVar Variation Id:
333329
dbSNP Id:
rs886055395
gnomAD v3:
2-19910832-T-C
gnomAD v4:
2-19910832-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19910832T>C , CM000664.2:g.19910832T>C | GRCh38 |
| NC_000002.11:g.20110593T>C , CM000664.1:g.20110593T>C | GRCh37 |
| NC_000002.10:g.19974074T>C | NCBI36 |
| NG_021212.1:g.84292A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.*2726A>G MANE Select | ENSP00000281405.5:n.*2726A>G | |
| ENST00000345530.8:c.*2726A>G MANE Plus Clinical | ENSP00000314444.5:n.*2726A>G | |
| ENST00000281405.8:c.*2726A>G | ENSP00000281405.4:n.*2726A>G | |
| ENST00000345530.7:c.*2726A>G | ENSP00000314444.5:n.*2726A>G | |
| NM_001006657.1:c.*2726A>G | NP_001006658.1:n.*2726A>G | |
| NM_020779.3:c.*2726A>G | NP_065830.2:n.*2726A>G | |
| XM_011533007.1:c.*2726A>G | XP_011531309.1:n.*2726A>G | |
| XM_011533007.2:c.*2726A>G | XP_011531309.1:n.*2726A>G | |
| XR_426989.3:n.6172A>G | ||
| NM_001006657.2:c.*2726A>G MANE Plus Clinical | NP_001006658.1:n.*2726A>G | |
| NM_020779.4:c.*2726A>G MANE Select | NP_065830.2:n.*2726A>G |