Linked Data
ClinVar Variation Id:
1578157
ClinVar RCV Id:
RCV002081338
dbSNP Id:
rs751246954
ExAC:
2:26653659 A / G
gnomAD v2:
2-26653659-A-G
gnomAD v3:
2-26430791-A-G
gnomAD v4:
2-26430791-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26430791A>G , CM000664.2:g.26430791A>G | GRCh38 |
| NC_000002.11:g.26653659A>G , CM000664.1:g.26653659A>G | GRCh37 |
| NC_000002.10:g.26507163A>G | NCBI36 |
| NG_042824.1:g.33880A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.684A>G MANE Select | ENSP00000288710.2:p.Ala228= | |
| ENST00000649059.1:c.670A>G | ||
| ENST00000288710.6:c.684A>G | ENSP00000288710.2:p.Ala228= | |
| ENST00000421869.5:c.*137A>G | ENSP00000414375.1:n.*137A>G | |
| ENST00000442810.5:n.171A>G | ||
| ENST00000483675.1:n.285A>G | ||
| ENST00000487307.5:n.391A>G | ||
| ENST00000497651.1:n.574A>G | ||
| NM_145038.3:c.684A>G | NP_659475.2:p.Ala228= | |
| NM_145038.4:c.684A>G | NP_659475.2:p.Ala228= | |
| XM_005264637.3:c.66A>G | XP_005264694.1:p.Ala22= | |
| XM_005264638.3:c.-197A>G | XP_005264695.1:n.-197A>G | |
| XM_017005271.1:c.-197A>G | XP_016860760.1:n.-197A>G | |
| XM_024453218.1:c.-197A>G | XP_024308986.1:n.-197A>G | |
| NM_145038.5:c.684A>G MANE Select | NP_659475.2:p.Ala228= |