Linked Data
ClinVar Variation Id:
1738550
ClinVar RCV Id:
RCV002327761
dbSNP Id:
rs1267240858
gnomAD v3:
12-12718257-A-C
gnomAD v4:
12-12718257-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718257A>C , CM000674.2:g.12718257A>C | GRCh38 |
| NC_000012.11:g.12871191A>C , CM000674.1:g.12871191A>C | GRCh37 |
| NC_000012.10:g.12762458A>C | NCBI36 |
| NG_016341.1:g.5890A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.418A>C | ENSP00000507272.1:p.Ser140Arg | |
| ENST00000682620.1:n.1631-568A>C | ||
| ENST00000684771.1:n.585-568A>C | ||
| ENST00000228872.9:c.418A>C MANE Select | ENSP00000228872.4:p.Ser140Arg | |
| ENST00000228872.8:c.418A>C | ENSP00000228872.4:p.Ser140Arg | |
| ENST00000396340.1:c.418A>C | ENSP00000379629.1:p.Ser140Arg | |
| ENST00000442489.1:c.193+204A>C | ENSP00000407597.1:n.193+204A>C | |
| ENST00000477087.1:n.155-568A>C | ||
| NM_004064.4:c.418A>C | NP_004055.1:p.Ser140Arg | |
| NM_004064.5:c.418A>C MANE Select | NP_004055.1:p.Ser140Arg |