Linked Data
ClinVar Variation Id:
1099906
ClinVar RCV Id:
RCV001422314
dbSNP Id:
rs974387932
gnomAD v2:
11-5247749-A-G
gnomAD v3:
11-5226519-A-G
gnomAD v4:
11-5226519-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226519A>G , CM000673.2:g.5226519A>G | GRCh38 |
| NC_000011.9:g.5247749A>G , CM000673.1:g.5247749A>G | GRCh37 |
| NC_000011.8:g.5204325A>G | NCBI36 |
| NG_000007.3:g.71097T>C | |
| NG_059281.1:g.5553T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.315+58T>C | ENSP00000494175.1:n.315+58T>C | |
| ENST00000335295.4:c.315+58T>C MANE Select | ENSP00000333994.3:n.315+58T>C | |
| ENST00000475226.1:n.247+58T>C | ||
| ENST00000485743.1:n.424T>C | ||
| ENST00000633227.1:c.*131+58T>C | ENSP00000488004.1:n.*131+58T>C | |
| NM_000518.4:c.315+58T>C | NP_000509.1:n.315+58T>C | |
| NM_000518.5:c.315+58T>C MANE Select | NP_000509.1:n.315+58T>C |