Linked Data
ClinVar Variation Id:
1622004
ClinVar RCV Id:
RCV002101983
dbSNP Id:
rs864622171
gnomAD v2:
19-1226574-C-G
gnomAD v4:
19-1226575-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226575C>G , CM000681.2:g.1226575C>G | GRCh38 |
| NC_000019.9:g.1226574C>G , CM000681.1:g.1226574C>G | GRCh37 |
| NC_000019.8:g.1177574C>G | NCBI36 |
| NG_007460.2:g.42169C>G , LRG_319:g.42169C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2831C>G | ENSP00000490268.2:n.*2831C>G | |
| ENST00000585748.3:c.858C>G | ENSP00000477641.2:p.Ala286= | |
| ENST00000585851.2:c.1056C>G | ENSP00000467912.2:p.Ala352= | |
| ENST00000326873.12:c.1230C>G MANE Select | ENSP00000324856.6:p.Ala410= | |
| ENST00000326873.11:c.1230C>G | ENSP00000324856.6:p.Ala410= | |
| ENST00000585465.2:n.2963C>G | ||
| ENST00000586243.5:c.1229C>G | ENSP00000467240.2:p.Pro410Arg | |
| ENST00000589152.5:n.1928C>G | ||
| NM_000455.4:c.1230C>G , LRG_319t1:c.1230C>G | NP_000446.1:p.Ala410= | |
| XM_005259617.1:c.1225C>G | XP_005259674.1:p.Pro409Ala | |
| XM_011528209.1:c.1003C>G | XP_011526511.1:p.Pro335Ala | |
| XM_005259617.3:c.1225C>G | XP_005259674.1:p.Pro409Ala | |
| XM_011528209.2:c.1003C>G | XP_011526511.1:p.Pro335Ala | |
| XR_001753738.2:n.2036C>G | ||
| XR_001753740.2:n.2006C>G | ||
| NM_000455.5:c.1230C>G MANE Select | NP_000446.1:p.Ala410= |