Linked Data
ClinVar Variation Id:
234420
dbSNP Id:
rs876661013
gnomAD v2:
19-1226519-T-C
gnomAD v4:
19-1226520-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226520T>C , CM000681.2:g.1226520T>C | GRCh38 |
| NC_000019.9:g.1226519T>C , CM000681.1:g.1226519T>C | GRCh37 |
| NC_000019.8:g.1177519T>C | NCBI36 |
| NG_007460.2:g.42114T>C , LRG_319:g.42114T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2776T>C | ENSP00000490268.2:n.*2776T>C | |
| ENST00000585748.3:c.803T>C | ENSP00000477641.2:p.Met268Thr | |
| ENST00000585851.2:c.1001T>C | ENSP00000467912.2:p.Met334Thr | |
| ENST00000326873.12:c.1175T>C MANE Select | ENSP00000324856.6:p.Met392Thr | |
| ENST00000326873.11:c.1175T>C | ENSP00000324856.6:p.Met392Thr | |
| ENST00000585465.2:n.2908T>C | ||
| ENST00000586243.5:c.1175T>C | ENSP00000467240.2:p.Met392Thr | |
| ENST00000589152.5:n.1873T>C | ||
| NM_000455.4:c.1175T>C , LRG_319t1:c.1175T>C | NP_000446.1:p.Met392Thr | |
| XM_005259617.1:c.1170T>C | XP_005259674.1:p.Tyr390= | |
| XM_011528209.1:c.948T>C | XP_011526511.1:p.Tyr316= | |
| XM_005259617.3:c.1170T>C | XP_005259674.1:p.Tyr390= | |
| XM_011528209.2:c.948T>C | XP_011526511.1:p.Tyr316= | |
| XR_001753738.2:n.1981T>C | ||
| XR_001753740.2:n.1951T>C | ||
| NM_000455.5:c.1175T>C MANE Select | NP_000446.1:p.Met392Thr |