Linked Data
ClinVar Variation Id:
1542848
ClinVar RCV Id:
RCV002167563
dbSNP Id:
rs766103010
gnomAD v4:
17-82079288-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82079288G>T , CM000679.2:g.82079288G>T | GRCh38 |
| NC_000017.10:g.80037164G>T , CM000679.1:g.80037164G>T | GRCh37 |
| NC_000017.9:g.77630453G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306749.4:c.7399-8C>A MANE Select | ENSP00000304592.2:n.7399-8C>A | |
| ENST00000636628.1:c.34C>A | ||
| ENST00000306749.3:c.7399-8C>A | ENSP00000304592.2:n.7399-8C>A | |
| ENST00000578424.2:n.678-8C>A | ||
| ENST00000580382.1:c.569-8C>A | ||
| ENST00000584610.2:n.574-8C>A | ||
| ENST00000634990.1:c.7393-8C>A | ENSP00000488964.1:n.7393-8C>A | |
| NM_004104.4:c.7399-8C>A | NP_004095.4:n.7399-8C>A | |
| XM_011523538.1:c.7399-8C>A | XP_011521840.1:n.7399-8C>A | |
| XM_011523538.2:c.7399-8C>A | XP_011521840.1:n.7399-8C>A | |
| NM_004104.5:c.7399-8C>A MANE Select | NP_004095.4:n.7399-8C>A |