Linked Data
ClinVar Variation Id:
1135840
ClinVar RCV Id:
RCV001471290
dbSNP Id:
rs2131529212
gnomAD v4:
8-86575888-T-C
MyVariant Identifiers:
chr8:g.87588116T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575888T>C , CM000670.2:g.86575888T>C | GRCh38 |
| NC_000008.10:g.87588116T>C , CM000670.1:g.87588116T>C | GRCh37 |
| NC_000008.9:g.87657232T>C | NCBI36 |
| NG_016980.1:g.172788A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2346A>G MANE Select | ENSP00000316605.5:p.Gln782= | |
| ENST00000681546.1:n.2166A>G | ||
| ENST00000681746.1:c.*757A>G | ENSP00000505959.1:n.*757A>G | |
| ENST00000320005.5:c.2346A>G | ENSP00000316605.5:p.Gln782= | |
| ENST00000517327.5:c.276+2801A>G | ENSP00000428329.1:n.276+2801A>G | |
| NM_019098.4:c.2346A>G | NP_061971.3:p.Gln782= | |
| XM_011517138.1:c.1932A>G | XP_011515440.1:p.Gln644= | |
| XM_011517138.2:c.1932A>G | XP_011515440.1:p.Gln644= | |
| NM_019098.5:c.2346A>G MANE Select | NP_061971.3:p.Gln782= |