Linked Data
ClinVar Variation Id:
2006220
ClinVar RCV Id:
RCV002825787
dbSNP Id:
rs1156910250
gnomAD v2:
12-6979466-C-A
gnomAD v4:
12-6870302-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870302C>A , CM000674.2:g.6870302C>A | GRCh38 |
| NC_000012.11:g.6979466C>A , CM000674.1:g.6979466C>A | GRCh37 |
| NC_000012.10:g.6849727C>A | NCBI36 |
| NG_011948.1:g.7883C>A | |
| NG_013308.1:g.8056G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.669C>A MANE Select | ENSP00000379933.4:p.Ser223Arg | |
| ENST00000229270.8:c.780C>A | ENSP00000229270.4:p.Ser260Arg | |
| ENST00000396705.9:c.669C>A | ENSP00000379933.4:p.Ser223Arg | |
| ENST00000474253.1:n.158C>A | ||
| ENST00000488464.6:c.423C>A | ENSP00000475620.1:p.Ser141Arg | |
| ENST00000535434.5:c.423C>A | ENSP00000443599.1:p.Ser141Arg | |
| ENST00000613953.4:c.780C>A | ENSP00000484435.1:p.Ser260Arg | |
| NM_000365.5:c.669C>A | NP_000356.1:p.Ser223Arg | |
| NM_001159287.1:c.780C>A | NP_001152759.1:p.Ser260Arg | |
| NM_001258026.1:c.423C>A | NP_001244955.1:p.Ser141Arg | |
| XR_002957378.1:n.1677C>A | ||
| NM_000365.6:c.669C>A MANE Select | NP_000356.1:p.Ser223Arg | |
| NM_001258026.2:c.423C>A | NP_001244955.1:p.Ser141Arg |