Linked Data
ClinVar Variation Id:
370118
ClinVar RCV Id:
RCV000410923
dbSNP Id:
rs1057516246
gnomAD v2:
19-7587668-G-A
gnomAD v3:
19-7522782-G-A
gnomAD v4:
19-7522782-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7522782G>A , CM000681.2:g.7522782G>A | GRCh38 |
| NC_000019.9:g.7587668G>A , CM000681.1:g.7587668G>A | GRCh37 |
| NC_000019.8:g.7493668G>A | NCBI36 |
| NG_015806.1:g.5173G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.31+1G>A MANE Select | ENSP00000264079.5:n.31+1G>A | |
| ENST00000264079.10:c.31+1G>A | ENSP00000264079.5:n.31+1G>A | |
| ENST00000394321.9:n.111+1G>A | ||
| ENST00000596390.1:n.147+1G>A | ||
| ENST00000601003.1:c.31+1G>A | ENSP00000469074.1:n.31+1G>A | |
| NM_020533.2:c.31+1G>A | NP_065394.1:n.31+1G>A | |
| XR_936293.1:n.926+60C>T | ||
| XR_936294.1:n.926+60C>T | ||
| XR_936295.1:n.570+60C>T | ||
| XR_936293.2:n.952+60C>T | ||
| XR_936294.2:n.952+60C>T | ||
| NM_020533.3:c.31+1G>A MANE Select | NP_065394.1:n.31+1G>A |