Linked Data
ClinVar Variation Id:
568156
dbSNP Id:
rs1395403568
gnomAD v2:
15-91334055-A-T
gnomAD v4:
15-90790825-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90790825A>T , CM000677.2:g.90790825A>T | GRCh38 |
| NC_000015.9:g.91334055A>T , CM000677.1:g.91334055A>T | GRCh37 |
| NC_000015.8:g.89135059A>T | NCBI36 |
| NG_007272.1:g.78454A>T , LRG_20:g.78454A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.3000A>T MANE Select | ENSP00000347232.3:p.Arg1000Ser | |
| ENST00000560559.2:n.1573A>T | ||
| ENST00000648453.1:c.3000A>T | ENSP00000497646.1:p.Arg1000Ser | |
| ENST00000680772.1:c.3000A>T | ENSP00000506117.1:p.Arg1000Ser | |
| ENST00000681142.1:c.3000A>T | ENSP00000506682.1:p.Arg1000Ser | |
| ENST00000355112.7:c.3000A>T | ENSP00000347232.3:p.Arg1000Ser | |
| ENST00000559724.5:c.*1924A>T | ENSP00000453359.1:n.*1924A>T | |
| ENST00000560136.5:n.1026A>T | ||
| ENST00000560509.5:c.3000A>T | ENSP00000454158.1:p.Arg1000Ser | |
| ENST00000560559.1:n.537A>T | ||
| NM_000057.3:c.3000A>T | NP_000048.1:p.Arg1000Ser | |
| NM_001287246.1:c.3000A>T | NP_001274175.1:p.Arg1000Ser | |
| NM_001287247.1:c.3000A>T | NP_001274176.1:p.Arg1000Ser | |
| NM_001287248.1:c.1875A>T | NP_001274177.1:p.Arg625Ser | |
| XM_006720632.2:c.1038A>T | XP_006720695.1:p.Arg346Ser | |
| XM_011521881.1:c.1686A>T | XP_011520183.1:p.Arg562Ser | |
| XM_011521881.2:c.1686A>T | XP_011520183.1:p.Arg562Ser | |
| NM_000057.4:c.3000A>T MANE Select | NP_000048.1:p.Arg1000Ser | |
| NM_001287246.2:c.3000A>T | NP_001274175.1:p.Arg1000Ser | |
| NM_001287247.2:c.3000A>T | NP_001274176.1:p.Arg1000Ser | |
| NM_001287248.2:c.1875A>T | NP_001274177.1:p.Arg625Ser |