Linked Data
ClinVar Variation Id:
2920222
ClinVar RCV Id:
RCV003615521
dbSNP Id:
rs750775589
gnomAD v2:
19-7593150-C-A
gnomAD v4:
19-7528264-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528264C>A , CM000681.2:g.7528264C>A | GRCh38 |
| NC_000019.9:g.7593150C>A , CM000681.1:g.7593150C>A | GRCh37 |
| NC_000019.8:g.7499150C>A | NCBI36 |
| NG_015806.1:g.10655C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.877+7C>A MANE Select | ENSP00000264079.5:n.877+7C>A | |
| ENST00000264079.10:c.877+7C>A | ENSP00000264079.5:n.877+7C>A | |
| ENST00000394321.9:n.1192+7C>A | ||
| NM_020533.2:c.877+7C>A | NP_065394.1:n.877+7C>A | |
| NM_020533.3:c.877+7C>A MANE Select | NP_065394.1:n.877+7C>A |