Linked Data
ClinVar Variation Id:
439783
ClinVar RCV Id:
RCV000506063
RCV001103971
RCV000585933
RCV001103970
RCV001103972
RCV001104254
RCV003159645
dbSNP Id:
rs34515413
ExAC:
11:5247828 G / A
gnomAD v2:
11-5247828-G-A
gnomAD v3:
11-5226598-G-A
gnomAD v4:
11-5226598-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226598G>A , CM000673.2:g.5226598G>A | GRCh38 |
| NC_000011.9:g.5247828G>A , CM000673.1:g.5247828G>A | GRCh37 |
| NC_000011.8:g.5204404G>A | NCBI36 |
| NG_000007.3:g.71018C>T | |
| NG_059281.1:g.5474C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.294C>T | ENSP00000494175.1:p.His98= | |
| ENST00000335295.4:c.294C>T MANE Select | ENSP00000333994.3:p.His98= | |
| ENST00000475226.1:n.226C>T | ||
| ENST00000485743.1:n.345C>T | ||
| ENST00000633227.1:c.*110C>T | ENSP00000488004.1:n.*110C>T | |
| NM_000518.4:c.294C>T | NP_000509.1:p.His98= | |
| NM_000518.5:c.294C>T MANE Select | NP_000509.1:p.His98= |