Linked Data
ClinVar Variation Id:
757362
dbSNP Id:
rs1596273405
gnomAD v4:
15-90811206-T-C
MyVariant Identifiers:
chr15:g.91354436T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90811206T>C , CM000677.2:g.90811206T>C | GRCh38 |
| NC_000015.9:g.91354436T>C , CM000677.1:g.91354436T>C | GRCh37 |
| NC_000015.8:g.89155440T>C | NCBI36 |
| NG_007272.1:g.98835T>C , LRG_20:g.98835T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.3876T>C MANE Select | ENSP00000347232.3:p.Ala1292= | |
| ENST00000560559.2:n.2449T>C | ||
| ENST00000648453.1:c.3876T>C | ENSP00000497646.1:p.Ala1292= | |
| ENST00000680772.1:c.3876T>C | ENSP00000506117.1:p.Ala1292= | |
| ENST00000681142.1:c.3876T>C | ENSP00000506682.1:p.Ala1292= | |
| ENST00000355112.7:c.3876T>C | ENSP00000347232.3:p.Ala1292= | |
| ENST00000558825.5:n.1223T>C | ||
| ENST00000559724.5:c.*2800T>C | ENSP00000453359.1:n.*2800T>C | |
| ENST00000560136.5:n.1902T>C | ||
| ENST00000560509.5:c.3483T>C | ENSP00000454158.1:p.Ala1161= | |
| ENST00000560821.1:n.296T>C | ||
| NM_000057.3:c.3876T>C | NP_000048.1:p.Ala1292= | |
| NM_001287246.1:c.3876T>C | NP_001274175.1:p.Ala1292= | |
| NM_001287247.1:c.3483T>C | NP_001274176.1:p.Ala1161= | |
| NM_001287248.1:c.2751T>C | NP_001274177.1:p.Ala917= | |
| XM_006720632.2:c.1914T>C | XP_006720695.1:p.Ala638= | |
| XM_011521881.1:c.2562T>C | XP_011520183.1:p.Ala854= | |
| XM_011521881.2:c.2562T>C | XP_011520183.1:p.Ala854= | |
| NM_000057.4:c.3876T>C MANE Select | NP_000048.1:p.Ala1292= | |
| NM_001287246.2:c.3876T>C | NP_001274175.1:p.Ala1292= | |
| NM_001287247.2:c.3483T>C | NP_001274176.1:p.Ala1161= | |
| NM_001287248.2:c.2751T>C | NP_001274177.1:p.Ala917= |