Linked Data
ClinVar Variation Id:
1096096
ClinVar RCV Id:
RCV001417230
dbSNP Id:
rs565131043
ExAC:
11:5248132 A / G
gnomAD v2:
11-5248132-A-G
gnomAD v3:
11-5226902-A-G
gnomAD v4:
11-5226902-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226902A>G , CM000673.2:g.5226902A>G | GRCh38 |
| NC_000011.9:g.5248132A>G , CM000673.1:g.5248132A>G | GRCh37 |
| NC_000011.8:g.5204708A>G | NCBI36 |
| NG_000007.3:g.70714T>C | |
| NG_059281.1:g.5170T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.92+28T>C | ENSP00000494175.1:n.92+28T>C | |
| ENST00000335295.4:c.92+28T>C MANE Select | ENSP00000333994.3:n.92+28T>C | |
| ENST00000380315.2:c.92+28T>C | ENSP00000369671.2:n.92+28T>C | |
| ENST00000485743.1:n.143+28T>C | ||
| ENST00000633227.1:c.76+44T>C | ENSP00000488004.1:n.76+44T>C | |
| NM_000518.4:c.92+28T>C | NP_000509.1:n.92+28T>C | |
| NM_000518.5:c.92+28T>C MANE Select | NP_000509.1:n.92+28T>C |