Linked Data
ClinVar Variation Id:
142743
dbSNP Id:
rs587782687
gnomAD v3:
19-1226621-C-G
gnomAD v4:
19-1226621-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226621C>G , CM000681.2:g.1226621C>G | GRCh38 |
| NC_000019.9:g.1226620C>G , CM000681.1:g.1226620C>G | GRCh37 |
| NC_000019.8:g.1177620C>G | NCBI36 |
| NG_007460.2:g.42215C>G , LRG_319:g.42215C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2877C>G | ENSP00000490268.2:n.*2877C>G | |
| ENST00000585748.3:c.904C>G | ENSP00000477641.2:p.Arg302Gly | |
| ENST00000585851.2:c.1102C>G | ENSP00000467912.2:p.Arg368Gly | |
| ENST00000326873.12:c.1276C>G MANE Select | ENSP00000324856.6:p.Arg426Gly | |
| ENST00000326873.11:c.1276C>G | ENSP00000324856.6:p.Arg426Gly | |
| ENST00000585465.2:n.3009C>G | ||
| ENST00000586243.5:c.1273C>G | ENSP00000467240.2:p.Arg425Gly | |
| ENST00000589152.5:n.1974C>G | ||
| NM_000455.4:c.1276C>G , LRG_319t1:c.1276C>G | NP_000446.1:p.Arg426Gly | |
| XM_005259617.1:c.1271C>G | XP_005259674.1:p.Pro424Arg | |
| XM_011528209.1:c.1049C>G | XP_011526511.1:p.Pro350Arg | |
| XM_005259617.3:c.1271C>G | XP_005259674.1:p.Pro424Arg | |
| XM_011528209.2:c.1049C>G | XP_011526511.1:p.Pro350Arg | |
| XR_001753738.2:n.2082C>G | ||
| XR_001753740.2:n.2052C>G | ||
| NM_000455.5:c.1276C>G MANE Select | NP_000446.1:p.Arg426Gly |