Linked Data
ClinVar Variation Id:
9181
dbSNP Id:
rs104894187
ExAC:
10:86007463 A / C
gnomAD v2:
10-86007463-A-C
gnomAD v3:
10-84247707-A-C
gnomAD v4:
10-84247707-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84247707A>C , CM000672.2:g.84247707A>C | GRCh38 |
| NC_000010.10:g.86007463A>C , CM000672.1:g.86007463A>C | GRCh37 |
| NC_000010.9:g.85997443A>C | NCBI36 |
| NG_009106.1:g.7655A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358110.7:c.196A>C | ENSP00000350823.5:p.Ser66Arg | |
| ENST00000359452.9:c.196A>C | ENSP00000352427.4:p.Ser66Arg | |
| ENST00000478727.6:c.*267A>C | ENSP00000498966.1:n.*267A>C | |
| ENST00000483744.6:c.196A>C | ENSP00000498992.1:p.Ser66Arg | |
| ENST00000650682.1:c.-342A>C | ENSP00000498223.1:n.-342A>C | |
| ENST00000650774.1:c.146A>C | ENSP00000498908.1:p.Gln49Pro | |
| ENST00000651155.1:c.196A>C | ENSP00000499193.1:p.Ser66Arg | |
| ENST00000651237.1:c.-342A>C | ENSP00000498404.1:n.-342A>C | |
| ENST00000652073.1:c.-342A>C | ENSP00000498800.1:n.-342A>C | |
| ENST00000652092.2:c.196A>C MANE Select | ENSP00000498299.1:p.Ser66Arg | |
| ENST00000652122.1:c.196A>C | ENSP00000498917.1:p.Ser66Arg | |
| ENST00000652310.1:c.*124A>C | ENSP00000498927.1:n.*124A>C | |
| ENST00000358110.6:c.196A>C | ENSP00000350823.5:p.Ser66Arg | |
| ENST00000359452.8:c.196A>C | ENSP00000352427.4:p.Ser66Arg | |
| ENST00000372092.3:c.146A>C | ENSP00000361164.3:p.Gln49Pro | |
| ENST00000469446.5:n.234A>C | ||
| ENST00000478727.5:n.234A>C | ||
| ENST00000483660.5:n.108-1215A>C | ||
| ENST00000483744.5:n.3A>C | ||
| ENST00000483771.5:n.148A>C | ||
| NM_001012720.1:c.196A>C | NP_001012738.1:p.Ser66Arg | |
| NM_001012722.1:c.196A>C | NP_001012740.1:p.Ser66Arg | |
| NM_002921.3:c.196A>C | NP_002912.2:p.Ser66Arg | |
| XM_011540028.1:c.223A>C | XP_011538330.1:p.Ser75Arg | |
| XM_024448118.1:c.196A>C | XP_024303886.1:p.Ser66Arg | |
| XR_002957005.1:n.1546A>C | ||
| NM_001012720.2:c.196A>C MANE Select | NP_001012738.1:p.Ser66Arg | |
| NM_001012722.2:c.196A>C | NP_001012740.1:p.Ser66Arg | |
| NM_002921.4:c.196A>C | NP_002912.2:p.Ser66Arg |