Linked Data
ClinVar Variation Id:
371019
ClinVar RCV Id:
RCV000411895
dbSNP Id:
rs767950930
ExAC:
19:7593590 G / A
gnomAD v2:
19-7593590-G-A
gnomAD v3:
19-7528704-G-A
gnomAD v4:
19-7528704-G-A
COSMIC:
COSM3404776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528704G>A , CM000681.2:g.7528704G>A | GRCh38 |
| NC_000019.9:g.7593590G>A , CM000681.1:g.7593590G>A | GRCh37 |
| NC_000019.8:g.7499590G>A | NCBI36 |
| NG_015806.1:g.11095G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.984+1G>A MANE Select | ENSP00000264079.5:n.984+1G>A | |
| ENST00000264079.10:c.984+1G>A | ENSP00000264079.5:n.984+1G>A | |
| ENST00000394321.9:n.1299+1G>A | ||
| ENST00000595860.5:n.51G>A | ||
| NM_020533.2:c.984+1G>A | NP_065394.1:n.984+1G>A | |
| NM_020533.3:c.984+1G>A MANE Select | NP_065394.1:n.984+1G>A |