Linked Data
ClinVar Variation Id:
2909833
ClinVar RCV Id:
RCV003732467
dbSNP Id:
rs772953917
ExAC:
19:17986752 A / G
gnomAD v2:
19-17986752-A-G
gnomAD v3:
19-17875943-A-G
gnomAD v4:
19-17875943-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17875943A>G , CM000681.2:g.17875943A>G | GRCh38 |
| NC_000019.9:g.17986752A>G , CM000681.1:g.17986752A>G | GRCh37 |
| NC_000019.8:g.17847752A>G | NCBI36 |
| NG_012930.1:g.8971A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.544-9A>G MANE Select | ENSP00000222248.2:n.544-9A>G | |
| ENST00000222248.3:c.544-9A>G | ENSP00000222248.2:n.544-9A>G | |
| NM_000453.2:c.544-9A>G | NP_000444.1:n.544-9A>G | |
| XM_011528192.1:c.544-9A>G | XP_011526494.1:n.544-9A>G | |
| XM_011528193.1:c.277-9A>G | XP_011526495.1:n.277-9A>G | |
| XM_011528194.1:c.178-9A>G | XP_011526496.1:n.178-9A>G | |
| XM_011528192.2:c.544-9A>G | XP_011526494.1:n.544-9A>G | |
| XM_011528193.3:c.277-9A>G | XP_011526495.1:n.277-9A>G | |
| XM_011528194.3:c.178-9A>G | XP_011526496.1:n.178-9A>G | |
| XM_017027158.1:c.277-9A>G | XP_016882647.1:n.277-9A>G | |
| NM_000453.3:c.544-9A>G MANE Select | NP_000444.1:n.544-9A>G |