Linked Data
ClinVar Variation Id:
527857
dbSNP Id:
rs774759899
ExAC:
19:1226535 G / C
gnomAD v2:
19-1226535-G-C
gnomAD v3:
19-1226536-G-C
gnomAD v4:
19-1226536-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226536G>C , CM000681.2:g.1226536G>C | GRCh38 |
| NC_000019.9:g.1226535G>C , CM000681.1:g.1226535G>C | GRCh37 |
| NC_000019.8:g.1177535G>C | NCBI36 |
| NG_007460.2:g.42130G>C , LRG_319:g.42130G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2792G>C | ENSP00000490268.2:n.*2792G>C | |
| ENST00000585748.3:c.819G>C | ENSP00000477641.2:p.Ala273= | |
| ENST00000585851.2:c.1017G>C | ENSP00000467912.2:p.Ala339= | |
| ENST00000326873.12:c.1191G>C MANE Select | ENSP00000324856.6:p.Ala397= | |
| ENST00000326873.11:c.1191G>C | ENSP00000324856.6:p.Ala397= | |
| ENST00000585465.2:n.2924G>C | ||
| ENST00000586243.5:c.1191G>C | ENSP00000467240.2:p.Ala397= | |
| ENST00000589152.5:n.1889G>C | ||
| NM_000455.4:c.1191G>C , LRG_319t1:c.1191G>C | NP_000446.1:p.Ala397= | |
| XM_005259617.1:c.1186G>C | XP_005259674.1:p.Gly396Arg | |
| XM_011528209.1:c.964G>C | XP_011526511.1:p.Gly322Arg | |
| XM_005259617.3:c.1186G>C | XP_005259674.1:p.Gly396Arg | |
| XM_011528209.2:c.964G>C | XP_011526511.1:p.Gly322Arg | |
| XR_001753738.2:n.1997G>C | ||
| XR_001753740.2:n.1967G>C | ||
| NM_000455.5:c.1191G>C MANE Select | NP_000446.1:p.Ala397= |