Linked Data
ClinVar Variation Id:
3022267
ClinVar RCV Id:
RCV003881346
dbSNP Id:
rs897456386
gnomAD v2:
22-19906473-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19918950T>C , CM000684.2:g.19918950T>C | GRCh38 |
| NC_000022.10:g.19906473T>C , CM000684.1:g.19906473T>C | GRCh37 |
| NC_000022.9:g.18286473T>C | NCBI36 |
| NG_011835.1:g.27887A>G , LRG_417:g.27887A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.284A>G MANE Select | ENSP00000383365.1:p.Lys95Arg | |
| ENST00000334363.14:c.284A>G | ENSP00000334451.9:p.Lys95Arg | |
| ENST00000400518.5:c.194A>G | ENSP00000383362.1:p.Lys65Arg | |
| ENST00000400519.6:c.281A>G | ENSP00000383363.1:p.Lys94Arg | |
| ENST00000400521.6:c.284A>G | ENSP00000383365.1:p.Lys95Arg | |
| ENST00000400525.6:c.215A>G | ENSP00000383369.3:p.Lys72Arg | |
| ENST00000474308.5:c.227A>G | ENSP00000485665.1:p.Lys76Arg | |
| ENST00000491939.6:c.188A>G | ENSP00000485543.1:p.Lys63Arg | |
| ENST00000496729.2:n.289A>G | ||
| ENST00000542719.6:c.-5A>G | ENSP00000485128.2:n.-5A>G | |
| NM_001282512.1:c.284A>G | NP_001269441.1:p.Lys95Arg | |
| NM_006440.4:c.284A>G | NP_006431.2:p.Lys95Arg | |
| NM_001282512.2:c.284A>G | NP_001269441.1:p.Lys95Arg | |
| NM_001352300.1:c.281A>G | NP_001339229.1:p.Lys94Arg | |
| NM_001352301.1:c.194A>G | NP_001339230.1:p.Lys65Arg | |
| NM_001352302.1:c.-5A>G | NP_001339231.1:n.-5A>G | |
| NM_001352303.1:c.188A>G | NP_001339232.1:p.Lys63Arg | |
| NR_147957.1:n.416A>G | ||
| NM_006440.5:c.284A>G MANE Select | NP_006431.2:p.Lys95Arg | |
| NM_001282512.3:c.284A>G | NP_001269441.1:p.Lys95Arg | |
| NM_001352300.2:c.281A>G | NP_001339229.1:p.Lys94Arg | |
| NR_147957.2:n.242A>G | ||
| NM_001352301.2:c.194A>G | NP_001339230.1:p.Lys65Arg | |
| NM_001352302.2:c.-5A>G | NP_001339231.1:n.-5A>G | |
| NM_001352303.2:c.188A>G | NP_001339232.1:p.Lys63Arg |