Linked Data
ClinVar Variation Id:
1010518
ClinVar RCV Id:
RCV001308158
dbSNP Id:
rs1949506601
gnomAD v4:
13-48476778-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48476778C>A , CM000675.2:g.48476778C>A | GRCh38 |
| NC_000013.10:g.49050914C>A , CM000675.1:g.49050914C>A | GRCh37 |
| NC_000013.9:g.47948915C>A | NCBI36 |
| NG_009009.1:g.178032C>A , LRG_517:g.178032C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2598C>A MANE Select | ENSP00000267163.4:p.Ser866Arg | |
| ENST00000643064.1:c.194+95335C>A | ||
| ENST00000650461.1:c.2598C>A | ENSP00000497193.1:p.Ser866Arg | |
| ENST00000267163.4:c.2598C>A | ENSP00000267163.4:p.Ser866Arg | |
| ENST00000484879.1:n.332C>A | ||
| ENST00000531171.5:n.201C>A | ||
| NM_000321.2:c.2598C>A , LRG_517t1:c.2598C>A | NP_000312.2:p.Ser866Arg | |
| XM_011535171.1:c.2337C>A | XP_011533473.1:p.Ser779Arg | |
| XM_011535171.2:c.2337C>A | XP_011533473.1:p.Ser779Arg | |
| NM_000321.3:c.2598C>A MANE Select | NP_000312.2:p.Ser866Arg |