Linked Data
ClinVar Variation Id:
2985736
ClinVar RCV Id:
RCV003841343
dbSNP Id:
rs765118743
ExAC:
19:18896767 C / T
gnomAD v2:
19-18896767-C-T
gnomAD v3:
19-18785957-C-T
gnomAD v4:
19-18785957-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785957C>T , CM000681.2:g.18785957C>T | GRCh38 |
| NC_000019.9:g.18896767C>T , CM000681.1:g.18896767C>T | GRCh37 |
| NC_000019.8:g.18757767C>T | NCBI36 |
| NG_007070.1:g.10348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1489+8G>A MANE Select | ENSP00000222271.2:n.1489+8G>A | |
| ENST00000222271.6:c.1489+8G>A | ENSP00000222271.2:n.1489+8G>A | |
| ENST00000425807.1:c.1330+8G>A | ENSP00000403792.1:n.1330+8G>A | |
| ENST00000542601.6:c.1390+8G>A | ENSP00000439156.2:n.1390+8G>A | |
| NM_000095.2:c.1489+8G>A | NP_000086.2:n.1489+8G>A | |
| NM_000095.3:c.1489+8G>A MANE Select | NP_000086.2:n.1489+8G>A |