Linked Data
ClinVar Variation Id:
536622
ClinVar RCV Id:
RCV000645190
dbSNP Id:
rs112034326
ExAC:
19:49477994 C / T
gnomAD v2:
19-49477994-C-T
gnomAD v3:
19-48974737-C-T
gnomAD v4:
19-48974737-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48974737C>T , CM000681.2:g.48974737C>T | GRCh38 |
| NC_000019.9:g.49477994C>T , CM000681.1:g.49477994C>T | GRCh37 |
| NC_000019.8:g.54169806C>T | NCBI36 |
| NG_012923.1:g.23617G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323798.8:c.1309-4G>A MANE Select | ENSP00000317904.3:n.1309-4G>A | |
| ENST00000263276.6:c.1117-4G>A | ENSP00000263276.6:n.1117-4G>A | |
| ENST00000323798.7:c.1309-4G>A | ENSP00000317904.3:n.1309-4G>A | |
| ENST00000472004.5:n.64-4G>A | ||
| ENST00000496048.1:n.216-4G>A | ||
| NM_001161587.1:c.1117-4G>A | NP_001155059.1:n.1117-4G>A | |
| NM_002103.4:c.1309-4G>A | NP_002094.2:n.1309-4G>A | |
| NR_027763.1:n.1368-4G>A | ||
| NM_002103.5:c.1309-4G>A MANE Select | NP_002094.2:n.1309-4G>A | |
| NM_001161587.2:c.1117-4G>A | NP_001155059.1:n.1117-4G>A | |
| NR_027763.2:n.1324-4G>A |