Linked Data
ClinVar Variation Id:
237797
dbSNP Id:
rs776369486
ExAC:
19:1207126 C / T
gnomAD v2:
19-1207126-C-T
gnomAD v4:
19-1207127-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1207127C>T , CM000681.2:g.1207127C>T | GRCh38 |
| NC_000019.9:g.1207126C>T , CM000681.1:g.1207126C>T | GRCh37 |
| NC_000019.8:g.1158126C>T | NCBI36 |
| NG_007460.2:g.22721C>T , LRG_319:g.22721C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.214C>T | ENSP00000490268.2:p.Leu72= | |
| ENST00000585748.3:c.-82-11290C>T | ENSP00000477641.2:n.-82-11290C>T | |
| ENST00000585851.2:c.214C>T | ENSP00000467912.2:p.Leu72= | |
| ENST00000326873.12:c.214C>T MANE Select | ENSP00000324856.6:p.Leu72= | |
| ENST00000652231.1:c.214C>T | ENSP00000498804.1:p.Leu72= | |
| ENST00000326873.11:c.214C>T | ENSP00000324856.6:p.Leu72= | |
| ENST00000585748.2:c.-82-11290C>T | ENSP00000477641.1:n.-82-11290C>T | |
| ENST00000585851.1:c.214C>T | ENSP00000467912.1:p.Leu72= | |
| ENST00000586243.5:c.214C>T | ENSP00000467240.2:p.Leu72= | |
| ENST00000586358.5:n.37C>T | ||
| ENST00000589152.5:n.304C>T | ||
| ENST00000593219.5:c.214C>T | ENSP00000466610.1:p.Leu72= | |
| NM_000455.4:c.214C>T , LRG_319t1:c.214C>T | NP_000446.1:p.Leu72= | |
| XM_005259617.1:c.214C>T | XP_005259674.1:p.Leu72= | |
| XM_005259618.3:c.214C>T | XP_005259675.1:p.Leu72= | |
| XM_011528209.1:c.-140C>T | XP_011526511.1:n.-140C>T | |
| XR_936204.1:n.839C>T | ||
| XM_005259617.3:c.214C>T | XP_005259674.1:p.Leu72= | |
| XM_011528209.2:c.-140C>T | XP_011526511.1:n.-140C>T | |
| XR_001753738.2:n.839C>T | ||
| XR_001753739.1:n.839C>T | ||
| XR_001753740.2:n.839C>T | ||
| NM_000455.5:c.214C>T MANE Select | NP_000446.1:p.Leu72= |