Linked Data
ClinVar Variation Id:
1799293
ClinVar RCV Id:
RCV002444140
gnomAD v4:
15-90794201-T-C
MyVariant Identifiers:
chr15:g.91337431T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90794201T>C , CM000677.2:g.90794201T>C | GRCh38 |
| NC_000015.9:g.91337431T>C , CM000677.1:g.91337431T>C | GRCh37 |
| NC_000015.8:g.89138435T>C | NCBI36 |
| NG_007272.1:g.81830T>C , LRG_20:g.81830T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.3054T>C MANE Select | ENSP00000347232.3:p.Thr1018= | |
| ENST00000560559.2:n.1627T>C | ||
| ENST00000648453.1:c.3054T>C | ENSP00000497646.1:p.Thr1018= | |
| ENST00000680772.1:c.3054T>C | ENSP00000506117.1:p.Thr1018= | |
| ENST00000681142.1:c.3054T>C | ENSP00000506682.1:p.Thr1018= | |
| ENST00000355112.7:c.3054T>C | ENSP00000347232.3:p.Thr1018= | |
| ENST00000558825.5:n.401T>C | ||
| ENST00000559724.5:c.*1978T>C | ENSP00000453359.1:n.*1978T>C | |
| ENST00000560136.5:n.1080T>C | ||
| ENST00000560509.5:c.3054T>C | ENSP00000454158.1:p.Thr1018= | |
| ENST00000560559.1:n.591T>C | ||
| NM_000057.3:c.3054T>C | NP_000048.1:p.Thr1018= | |
| NM_001287246.1:c.3054T>C | NP_001274175.1:p.Thr1018= | |
| NM_001287247.1:c.3054T>C | NP_001274176.1:p.Thr1018= | |
| NM_001287248.1:c.1929T>C | NP_001274177.1:p.Thr643= | |
| XM_006720632.2:c.1092T>C | XP_006720695.1:p.Thr364= | |
| XM_011521881.1:c.1740T>C | XP_011520183.1:p.Thr580= | |
| XM_011521881.2:c.1740T>C | XP_011520183.1:p.Thr580= | |
| NM_000057.4:c.3054T>C MANE Select | NP_000048.1:p.Thr1018= | |
| NM_001287246.2:c.3054T>C | NP_001274175.1:p.Thr1018= | |
| NM_001287247.2:c.3054T>C | NP_001274176.1:p.Thr1018= | |
| NM_001287248.2:c.1929T>C | NP_001274177.1:p.Thr643= |