Linked Data
ClinVar Variation Id:
2703278
ClinVar RCV Id:
RCV003579233
dbSNP Id:
rs2080244449
gnomAD v3:
3-119365331-A-G
gnomAD v4:
3-119365331-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119365331A>G , CM000665.2:g.119365331A>G | GRCh38 |
| NC_000003.11:g.119084178A>G , CM000665.1:g.119084178A>G | GRCh37 |
| NC_000003.10:g.120566868A>G | NCBI36 |
| NG_007665.2:g.75959A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.116A>G MANE Select | ENSP00000264245.4:p.Lys39Arg | |
| ENST00000264245.8:c.116A>G | ENSP00000264245.4:p.Lys39Arg | |
| ENST00000482743.1:c.29A>G | ENSP00000418429.1:p.Lys10Arg | |
| NM_020754.3:c.116A>G | NP_065805.2:p.Lys39Arg | |
| XM_005247671.3:c.23A>G | XP_005247728.1:p.Lys8Arg | |
| XM_006713714.2:c.116A>G | XP_006713777.1:p.Lys39Arg | |
| XM_006713714.3:c.116A>G | XP_006713777.1:p.Lys39Arg | |
| XM_017006955.1:c.-232A>G | XP_016862444.1:n.-232A>G | |
| NM_020754.4:c.116A>G MANE Select | NP_065805.2:p.Lys39Arg |