Linked Data
ClinVar Variation Id:
2213652
ClinVar RCV Id:
RCV002665354
dbSNP Id:
rs375297253
ExAC:
11:103044018 A / G
gnomAD v2:
11-103044018-A-G
gnomAD v3:
11-103173289-A-G
gnomAD v4:
11-103173289-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103173289A>G , CM000673.2:g.103173289A>G | GRCh38 |
| NC_000011.9:g.103044018A>G , CM000673.1:g.103044018A>G | GRCh37 |
| NC_000011.8:g.102549228A>G | NCBI36 |
| NG_016423.1:g.68859A>G | |
| NG_016423.2:g.68859A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.5542A>G MANE Plus Clinical | ENSP00000497174.1:p.Ile1848Val | |
| ENST00000375735.7:c.5542A>G MANE Select | ENSP00000364887.2:p.Ile1848Val | |
| ENST00000649323.1:c.*3087A>G | ENSP00000497581.1:n.*3087A>G | |
| ENST00000650373.1:c.5542A>G | ENSP00000497174.1:p.Ile1848Val | |
| ENST00000334267.11:c.2205+38870A>G | ENSP00000334021.7:n.2205+38870A>G | |
| ENST00000375735.6:c.5542A>G | ENSP00000364887.2:p.Ile1848Val | |
| ENST00000398093.7:c.5542A>G | ENSP00000381167.3:p.Ile1848Val | |
| NM_001080463.1:c.5542A>G | NP_001073932.1:p.Ile1848Val | |
| NM_001377.2:c.5542A>G | NP_001368.2:p.Ile1848Val | |
| XM_006718903.2:c.5542A>G | XP_006718966.1:p.Ile1848Val | |
| XM_017018291.1:c.5542A>G | XP_016873780.1:p.Ile1848Val | |
| XM_017018292.1:c.4924A>G | XP_016873781.1:p.Ile1642Val | |
| XM_017018293.1:c.5542A>G | XP_016873782.1:p.Ile1848Val | |
| NM_001377.3:c.5542A>G MANE Select | NP_001368.2:p.Ile1848Val | |
| NM_001080463.2:c.5542A>G MANE Plus Clinical | NP_001073932.1:p.Ile1848Val |