Linked Data
ClinVar Variation Id:
439779
ClinVar RCV Id:
RCV000506907
dbSNP Id:
rs33914944
gnomAD v4:
11-5226577-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226577C>A , CM000673.2:g.5226577C>A | GRCh38 |
| NC_000011.9:g.5247807C>A , CM000673.1:g.5247807C>A | GRCh37 |
| NC_000011.8:g.5204383C>A | NCBI36 |
| NG_000007.3:g.71039G>T | |
| NG_059281.1:g.5495G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.315G>T | ENSP00000494175.1:p.Arg105Ser | |
| ENST00000335295.4:c.315G>T MANE Select | ENSP00000333994.3:p.Arg105Ser | |
| ENST00000475226.1:n.247G>T | ||
| ENST00000485743.1:n.366G>T | ||
| ENST00000633227.1:c.*131G>T | ENSP00000488004.1:n.*131G>T | |
| NM_000518.4:c.315G>T | NP_000509.1:p.Arg105Ser | |
| NM_000518.5:c.315G>T MANE Select | NP_000509.1:p.Arg105Ser |