Linked Data
ClinVar Variation Id:
1633601
ClinVar RCV Id:
RCV002121969
dbSNP Id:
rs940295865
gnomAD v2:
19-45515554-C-A
gnomAD v3:
19-45012296-C-A
gnomAD v4:
19-45012296-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45012296C>A , CM000681.2:g.45012296C>A | GRCh38 |
| NC_000019.9:g.45515554C>A , CM000681.1:g.45515554C>A | GRCh37 |
| NC_000019.8:g.50207394C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.495+20C>A | ENSP00000423287.1:n.495+20C>A | |
| ENST00000700471.1:c.342+20C>A | ENSP00000515004.1:n.342+20C>A | |
| ENST00000221452.13:c.504+20C>A MANE Select | ENSP00000221452.7:n.504+20C>A | |
| ENST00000221452.12:c.504+20C>A | ENSP00000221452.7:n.504+20C>A | |
| ENST00000505236.1:c.495+20C>A | ENSP00000423287.1:n.495+20C>A | |
| ENST00000625761.2:c.504+20C>A | ENSP00000485826.1:n.504+20C>A | |
| NM_006509.3:c.504+20C>A | NP_006500.2:n.504+20C>A | |
| XM_005259127.2:c.495+20C>A | XP_005259184.1:n.495+20C>A | |
| XM_005259128.2:c.504+20C>A | XP_005259185.1:n.504+20C>A | |
| XM_005259127.3:c.495+20C>A | XP_005259184.1:n.495+20C>A | |
| NM_006509.4:c.504+20C>A MANE Select | NP_006500.2:n.504+20C>A |