Linked Data
ClinVar Variation Id:
3149723
ClinVar RCV Id:
RCV004438079
dbSNP Id:
rs1346876474
gnomAD v2:
17-57774984-T-C
gnomAD v4:
17-59697623-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.59697623T>C , CM000679.2:g.59697623T>C | GRCh38 |
| NC_000017.10:g.57774984T>C , CM000679.1:g.57774984T>C | GRCh37 |
| NC_000017.9:g.55129766T>C | NCBI36 |
| NG_042064.1:g.14976A>G | |
| NG_047043.1:g.82935T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393038.3:c.356A>G MANE Select | ENSP00000376758.2:p.Lys119Arg | |
| ENST00000393038.2:c.356A>G | ENSP00000376758.2:p.Lys119Arg | |
| ENST00000409433.2:c.359A>G | ENSP00000387180.2:p.Lys120Arg | |
| ENST00000470557.2:c.356A>G | ENSP00000464327.1:p.Lys119Arg | |
| ENST00000587935.1:n.45+9748A>G | ||
| NM_001015509.2:c.359A>G | NP_001015509.1:p.Lys120Arg | |
| NM_016077.3:c.356A>G | NP_057161.1:p.Lys119Arg | |
| NM_016077.4:c.356A>G | NP_057161.1:p.Lys119Arg | |
| XM_011524887.1:c.356A>G | XP_011523189.1:p.Lys119Arg | |
| XM_011524887.2:c.356A>G | XP_011523189.1:p.Lys119Arg | |
| NM_016077.5:c.356A>G MANE Select | NP_057161.1:p.Lys119Arg | |
| NM_001015509.3:c.359A>G | NP_001015509.1:p.Lys120Arg |