Linked Data
ClinVar Variation Id:
653975
ClinVar RCV Id:
RCV000809848
dbSNP Id:
rs267607128
gnomAD v4:
19-55157097-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157097G>T , CM000681.2:g.55157097G>T | GRCh38 |
| NC_000019.9:g.55668465G>T , CM000681.1:g.55668465G>T | GRCh37 |
| NC_000019.8:g.60360277G>T | NCBI36 |
| NG_007866.2:g.5636C>A , LRG_432:g.5636C>A | |
| NG_032759.1:g.14626C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.61C>A MANE Select | ENSP00000341838.5:p.Arg21Ser | |
| ENST00000665070.1:c.61C>A | ENSP00000499482.1:p.Arg21Ser | |
| ENST00000344887.9:c.61C>A | ENSP00000341838.5:p.Arg21Ser | |
| ENST00000586446.1:n.203C>A | ||
| ENST00000586669.5:n.69C>A | ||
| ENST00000587176.5:n.245C>A | ||
| ENST00000587871.1:c.680C>A | ||
| ENST00000590463.1:n.233C>A | ||
| NM_000363.4:c.61C>A , LRG_432t1:c.61C>A | NP_000354.4:p.Arg21Ser | |
| NM_000363.5:c.61C>A MANE Select | NP_000354.4:p.Arg21Ser |