Linked Data
ClinVar Variation Id:
2882695
ClinVar RCV Id:
RCV003750432
dbSNP Id:
rs145059267
ExAC:
2:198358163 A / C
gnomAD v2:
2-198358163-A-C
gnomAD v3:
2-197493439-A-C
gnomAD v4:
2-197493439-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197493439A>C , CM000664.2:g.197493439A>C | GRCh38 |
| NC_000002.11:g.198358163A>C , CM000664.1:g.198358163A>C | GRCh37 |
| NC_000002.10:g.198066408A>C | NCBI36 |
| NG_008915.1:g.11836T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388968.8:c.754T>G MANE Select | ENSP00000373620.3:p.Ser252Ala | |
| ENST00000418022.2:c.754T>G | ENSP00000412227.2:p.Ser252Ala | |
| ENST00000426480.2:c.754T>G | ENSP00000414446.2:p.Ser252Ala | |
| ENST00000428204.6:c.754T>G | ENSP00000396460.2:p.Ser252Ala | |
| ENST00000439605.2:c.754T>G | ENSP00000402478.2:p.Ser252Ala | |
| ENST00000440114.2:c.*560T>G | ENSP00000390404.1:n.*560T>G | |
| ENST00000452200.6:c.754T>G | ENSP00000412717.2:p.Ser252Ala | |
| ENST00000461097.2:n.3502T>G | ||
| ENST00000476746.6:n.1802T>G | ||
| ENST00000676933.1:c.658T>G | ENSP00000503144.1:p.Ser220Ala | |
| ENST00000677403.1:c.754T>G | ENSP00000504667.1:p.Ser252Ala | |
| ENST00000677454.1:c.754T>G | ENSP00000503295.1:p.Ser252Ala | |
| ENST00000677792.1:c.754T>G | ENSP00000504645.1:p.Ser252Ala | |
| ENST00000677913.1:c.754T>G | ENSP00000503139.1:p.Ser252Ala | |
| ENST00000678170.1:c.481T>G | ENSP00000503910.1:p.Ser161Ala | |
| ENST00000678545.1:c.754T>G | ENSP00000502920.1:p.Ser252Ala | |
| ENST00000678621.1:c.754T>G | ENSP00000504328.1:p.Ser252Ala | |
| ENST00000678761.1:c.754T>G | ENSP00000503894.1:p.Ser252Ala | |
| ENST00000678969.1:n.1395T>G | ||
| ENST00000679291.1:c.754T>G | ENSP00000504417.1:p.Ser252Ala | |
| ENST00000345042.6:c.754T>G | ENSP00000340019.2:p.Ser252Ala | |
| ENST00000388968.7:c.754T>G | ENSP00000373620.3:p.Ser252Ala | |
| ENST00000482167.1:n.372T>G | ||
| NM_002156.4:c.754T>G | NP_002147.2:p.Ser252Ala | |
| NM_199440.1:c.754T>G | NP_955472.1:p.Ser252Ala | |
| XM_005246518.2:c.754T>G | XP_005246575.1:p.Ser252Ala | |
| NM_002156.5:c.754T>G MANE Select | NP_002147.2:p.Ser252Ala | |
| NM_199440.2:c.754T>G | NP_955472.1:p.Ser252Ala |