Linked Data
ClinVar Variation Id:
422208
dbSNP Id:
rs780701076
ExAC:
15:93558047 A / C
gnomAD v2:
15-93558047-A-C
gnomAD v4:
15-93014817-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.93014817A>C , CM000677.2:g.93014817A>C | GRCh38 |
| NC_000015.9:g.93558047A>C , CM000677.1:g.93558047A>C | GRCh37 |
| NC_000015.8:g.91359051A>C | NCBI36 |
| NG_012826.1:g.119497A>C | |
| NG_012826.2:g.119497A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625662.3:c.4434A>C | ||
| ENST00000394196.9:c.4814A>C MANE Select | ENSP00000377747.4:p.Lys1605Thr | |
| ENST00000394196.8:c.4814A>C | ENSP00000377747.4:p.Lys1605Thr | |
| ENST00000625662.2:c.1217A>C | ||
| ENST00000626874.2:c.4814A>C | ENSP00000486629.1:p.Lys1605Thr | |
| ENST00000627460.1:c.50A>C | ||
| NM_001271.3:c.4814A>C | NP_001262.3:p.Lys1605Thr | |
| NM_001271.4:c.4814A>C MANE Select | NP_001262.3:p.Lys1605Thr |