Linked Data
ClinVar Variation Id:
2204836
ClinVar RCV Id:
RCV004071079
dbSNP Id:
rs374472802
ExAC:
8:104390306 A / C
gnomAD v2:
8-104390306-A-C
gnomAD v3:
8-103378078-A-C
gnomAD v4:
8-103378078-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.103378078A>C , CM000670.2:g.103378078A>C | GRCh38 |
| NC_000008.10:g.104390306A>C , CM000670.1:g.104390306A>C | GRCh37 |
| NC_000008.9:g.104459482A>C | NCBI36 |
| NG_031985.1:g.11564A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330295.10:c.424A>C MANE Select | ENSP00000330523.5:p.Ser142Arg | |
| ENST00000330295.9:c.424A>C | ENSP00000330523.5:p.Ser142Arg | |
| ENST00000520337.1:c.382A>C | ENSP00000430550.1:p.Ser128Arg | |
| ENST00000520880.1:c.34A>C | ENSP00000430399.1:p.Ser12Arg | |
| NM_001256099.1:c.382A>C | NP_001243028.1:p.Ser128Arg | |
| NM_138455.3:c.424A>C | NP_612464.1:p.Ser142Arg | |
| XM_011516824.1:c.372+2119A>C | XP_011515126.1:n.372+2119A>C | |
| XM_011516824.2:c.372+2119A>C | XP_011515126.1:n.372+2119A>C | |
| NM_138455.4:c.424A>C MANE Select | NP_612464.1:p.Ser142Arg | |
| NM_001256099.2:c.382A>C | NP_001243028.1:p.Ser128Arg |