Linked Data
ClinVar Variation Id:
1118308
ClinVar RCV Id:
RCV001447336
dbSNP Id:
rs34083951
gnomAD v2:
11-5247843-G-A
gnomAD v4:
11-5226613-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226613G>A , CM000673.2:g.5226613G>A | GRCh38 |
| NC_000011.9:g.5247843G>A , CM000673.1:g.5247843G>A | GRCh37 |
| NC_000011.8:g.5204419G>A | NCBI36 |
| NG_000007.3:g.71003C>T | |
| NG_059281.1:g.5459C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.279C>T | ENSP00000494175.1:p.His93= | |
| ENST00000335295.4:c.279C>T MANE Select | ENSP00000333994.3:p.His93= | |
| ENST00000475226.1:n.211C>T | ||
| ENST00000485743.1:n.330C>T | ||
| ENST00000633227.1:c.*95C>T | ENSP00000488004.1:n.*95C>T | |
| NM_000518.4:c.279C>T | NP_000509.1:p.His93= | |
| NM_000518.5:c.279C>T MANE Select | NP_000509.1:p.His93= |