Linked Data
ClinVar Variation Id:
1553928
ClinVar RCV Id:
RCV002199504
dbSNP Id:
rs748065648
ExAC:
8:87588218 C / T
gnomAD v2:
8-87588218-C-T
gnomAD v4:
8-86575990-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575990C>T , CM000670.2:g.86575990C>T | GRCh38 |
| NC_000008.10:g.87588218C>T , CM000670.1:g.87588218C>T | GRCh37 |
| NC_000008.9:g.87657334C>T | NCBI36 |
| NG_016980.1:g.172686G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2244G>A MANE Select | ENSP00000316605.5:p.Glu748= | |
| ENST00000681546.1:n.2064G>A | ||
| ENST00000681746.1:c.*655G>A | ENSP00000505959.1:n.*655G>A | |
| ENST00000320005.5:c.2244G>A | ENSP00000316605.5:p.Glu748= | |
| ENST00000517327.5:c.276+2699G>A | ENSP00000428329.1:n.276+2699G>A | |
| NM_019098.4:c.2244G>A | NP_061971.3:p.Glu748= | |
| XM_011517138.1:c.1830G>A | XP_011515440.1:p.Glu610= | |
| XM_011517138.2:c.1830G>A | XP_011515440.1:p.Glu610= | |
| NM_019098.5:c.2244G>A MANE Select | NP_061971.3:p.Glu748= |