Linked Data
ClinVar Variation Id:
1700618
ClinVar RCV Id:
RCV002274852
dbSNP Id:
rs2122334749
gnomAD v4:
19-49864072-C-A
MutSpliceDB:
CA406886505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49864072C>A , CM000681.2:g.49864072C>A | GRCh38 |
| NC_000019.9:g.50367329C>A , CM000681.1:g.50367329C>A | GRCh37 |
| NC_000019.8:g.55059141C>A | NCBI36 |
| NG_027717.1:g.8494G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.637-1G>T MANE Select | ENSP00000323511.2:n.637-1G>T | |
| ENST00000636214.1:c.*174-1G>T | ENSP00000489983.1:n.*174-1G>T | |
| ENST00000322344.7:c.637-1G>T | ENSP00000323511.2:n.637-1G>T | |
| ENST00000593946.5:c.*564-1G>T | ENSP00000468896.1:n.*564-1G>T | |
| ENST00000594661.5:n.1138-1G>T | ||
| ENST00000596014.5:c.637-1G>T | ENSP00000472300.1:n.637-1G>T | |
| ENST00000599543.3:c.637-1G>T | ENSP00000469848.2:n.637-1G>T | |
| ENST00000600573.5:c.637-1G>T | ENSP00000469826.1:n.637-1G>T | |
| ENST00000600910.5:c.637-1G>T | ENSP00000473137.1:n.637-1G>T | |
| ENST00000627232.2:c.557-1G>T | ENSP00000486037.1:n.557-1G>T | |
| ENST00000627317.1:c.258-1G>T | ||
| ENST00000629179.1:n.408-1G>T | ||
| ENST00000631020.2:c.636+107G>T | ENSP00000486707.1:n.636+107G>T | |
| NM_007254.3:c.637-1G>T | NP_009185.2:n.637-1G>T | |
| NM_007254.4:c.637-1G>T MANE Select | NP_009185.2:n.637-1G>T |