Linked Data
ClinVar Variation Id:
337474
ClinVar RCV Id:
RCV000333222
dbSNP Id:
rs867431947
gnomAD v2:
2-96917697-A-C
gnomAD v3:
2-96251959-A-C
gnomAD v4:
2-96251959-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96251959A>C , CM000664.2:g.96251959A>C | GRCh38 |
| NC_000002.11:g.96917697A>C , CM000664.1:g.96917697A>C | GRCh37 |
| NC_000002.10:g.96281424A>C | NCBI36 |
| NG_027695.1:g.19055T>G , LRG_528:g.19055T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.*1849T>G MANE Select | ENSP00000258439.3:n.*1849T>G | |
| ENST00000258439.7:c.*1849T>G | ENSP00000258439.2:n.*1849T>G | |
| ENST00000432959.1:c.*1849T>G | ENSP00000416660.1:n.*1849T>G | |
| NM_001193304.2:c.*1849T>G | NP_001180233.1:n.*1849T>G | |
| NM_017849.3:c.*1849T>G , LRG_528t1:c.*1849T>G | NP_060319.1:n.*1849T>G | |
| XM_017004450.1:c.*1150T>G | XP_016859939.1:n.*1150T>G | |
| XM_017004452.1:c.*1849T>G | XP_016859941.1:n.*1849T>G | |
| NM_001193304.3:c.*1849T>G | NP_001180233.1:n.*1849T>G | |
| NM_017849.4:c.*1849T>G MANE Select | NP_060319.1:n.*1849T>G |