Linked Data
ClinVar Variation Id:
893824
ClinVar RCV Id:
RCV001132898
dbSNP Id:
rs142120097
gnomAD v2:
19-50370802-C-T
gnomAD v3:
19-49867545-C-T
gnomAD v4:
19-49867545-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49867545C>T , CM000681.2:g.49867545C>T | GRCh38 |
| NC_000019.9:g.50370802C>T , CM000681.1:g.50370802C>T | GRCh37 |
| NC_000019.8:g.55062614C>T | NCBI36 |
| NG_027717.1:g.5021G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.-90G>A MANE Select | ENSP00000323511.2:n.-90G>A | |
| ENST00000636214.1:c.-14+134G>A | ENSP00000489983.1:n.-14+134G>A | |
| ENST00000638016.1:c.-77-13G>A | ENSP00000489771.1:n.-77-13G>A | |
| ENST00000322344.7:c.-90G>A | ENSP00000323511.2:n.-90G>A | |
| ENST00000595792.1:n.17G>A | ||
| ENST00000596726.3:c.-64G>A | ENSP00000470887.2:n.-64G>A | |
| ENST00000599543.3:c.-14+134G>A | ENSP00000469848.2:n.-14+134G>A | |
| ENST00000600573.5:c.-90G>A | ENSP00000469826.1:n.-90G>A | |
| ENST00000600910.5:c.-90G>A | ENSP00000473137.1:n.-90G>A | |
| ENST00000626274.2:n.20G>A | ||
| ENST00000629179.1:n.183-3142G>A | ||
| NM_007254.3:c.-90G>A | NP_009185.2:n.-90G>A | |
| NM_007254.4:c.-90G>A MANE Select | NP_009185.2:n.-90G>A |