Linked Data
ClinVar Variation Id:
328543
dbSNP Id:
rs45531732
ExAC:
19:17999245 C / G
gnomAD v2:
19-17999245-C-G
gnomAD v3:
19-17888436-C-G
gnomAD v4:
19-17888436-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17888436C>G , CM000681.2:g.17888436C>G | GRCh38 |
| NC_000019.9:g.17999245C>G , CM000681.1:g.17999245C>G | GRCh37 |
| NC_000019.8:g.17860245C>G | NCBI36 |
| NG_012930.1:g.21464C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.1632C>G MANE Select | ENSP00000222248.2:p.Ala544= | |
| ENST00000222248.3:c.1632C>G | ENSP00000222248.2:p.Ala544= | |
| NM_000453.2:c.1632C>G | NP_000444.1:p.Ala544= | |
| XM_011528192.1:c.1665C>G | XP_011526494.1:p.Ala555= | |
| XM_011528193.1:c.1398C>G | XP_011526495.1:p.Ala466= | |
| XM_011528194.1:c.1299C>G | XP_011526496.1:p.Ala433= | |
| XM_011528192.2:c.1665C>G | XP_011526494.1:p.Ala555= | |
| XM_011528193.3:c.1398C>G | XP_011526495.1:p.Ala466= | |
| XM_011528194.3:c.1299C>G | XP_011526496.1:p.Ala433= | |
| XM_017027158.1:c.1365C>G | XP_016882647.1:p.Ala455= | |
| NM_000453.3:c.1632C>G MANE Select | NP_000444.1:p.Ala544= |