Linked Data
ClinVar Variation Id:
1282596
ClinVar RCV Id:
RCV001695988
dbSNP Id:
rs264
gnomAD v2:
8-19813180-G-A
gnomAD v3:
8-19955669-G-A
gnomAD v4:
8-19955669-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955669G>A , CM000670.2:g.19955669G>A | GRCh38 |
| NC_000008.10:g.19813180G>A , CM000670.1:g.19813180G>A | GRCh37 |
| NC_000008.9:g.19857460G>A | NCBI36 |
| NG_008855.1:g.21599G>A | |
| NG_008855.2:g.58953G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.776-172G>A MANE Select | ENSP00000497642.1:n.776-172G>A | |
| ENST00000311322.8:c.776-172G>A | ENSP00000309757.6:n.776-172G>A | |
| NM_000237.2:c.776-172G>A | NP_000228.1:n.776-172G>A | |
| NM_000237.3:c.776-172G>A MANE Select | NP_000228.1:n.776-172G>A |