Linked Data
ClinVar Variation Id:
1412099
ClinVar RCV Id:
RCV001943126
dbSNP Id:
rs148735171
ExAC:
2:73118662 A / G
gnomAD v2:
2-73118662-A-G
gnomAD v3:
2-72891533-A-G
gnomAD v4:
2-72891533-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891533A>G , CM000664.2:g.72891533A>G | GRCh38 |
| NC_000002.11:g.73118662A>G , CM000664.1:g.73118662A>G | GRCh37 |
| NC_000002.10:g.72972170A>G | NCBI36 |
| NG_008234.1:g.9151A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.782A>G MANE Select | ENSP00000234454.5:p.Lys261Arg | |
| ENST00000234454.5:c.782A>G | ENSP00000234454.5:p.Lys261Arg | |
| ENST00000498749.1:n.727A>G | ||
| NM_003124.4:c.782A>G | NP_003115.1:p.Lys261Arg | |
| NM_003124.5:c.782A>G MANE Select | NP_003115.1:p.Lys261Arg |