Linked Data
ClinVar Variation Id:
500389
dbSNP Id:
rs751507771
ExAC:
22:18570805 A / G
gnomAD v2:
22-18570805-A-G
gnomAD v3:
22-18088039-A-G
gnomAD v4:
22-18088039-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18088039A>G , CM000684.2:g.18088039A>G | GRCh38 |
| NC_000022.10:g.18570805A>G , CM000684.1:g.18570805A>G | GRCh37 |
| NC_000022.9:g.16950805A>G | NCBI36 |
| NG_008339.1:g.15120A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.882A>G MANE Select | ENSP00000382648.4:p.Ala294= | |
| ENST00000474897.6:c.814+2781A>G | ENSP00000434235.2:n.814+2781A>G | |
| ENST00000329627.11:c.882A>G | ENSP00000331106.5:p.Ala294= | |
| ENST00000399744.7:c.882A>G | ENSP00000382648.3:p.Ala294= | |
| ENST00000428061.2:c.735A>G | ENSP00000412441.2:p.Ala245= | |
| ENST00000474897.5:c.371+8025A>G | ENSP00000434235.1:n.371+8025A>G | |
| ENST00000610387.4:c.735A>G | ENSP00000482091.1:p.Ala245= | |
| NM_001127649.2:c.882A>G | NP_001121121.1:p.Ala294= | |
| NM_001199319.1:c.735A>G | NP_001186248.1:p.Ala245= | |
| NM_017929.5:c.882A>G | NP_060399.1:p.Ala294= | |
| NM_001127649.3:c.882A>G MANE Select | NP_001121121.1:p.Ala294= | |
| NM_001199319.2:c.735A>G | NP_001186248.1:p.Ala245= | |
| NM_017929.6:c.882A>G | NP_060399.1:p.Ala294= |