Linked Data
ClinVar Variation Id:
1279930
ClinVar RCV Id:
RCV001693499
dbSNP Id:
rs1488953322
gnomAD v4:
10-113858573-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113858573A>T , CM000672.2:g.113858573A>T | GRCh38 |
| NC_000010.10:g.115618332A>T , CM000672.1:g.115618332A>T | GRCh37 |
| NC_000010.9:g.115608322A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369301.3:c.224A>T MANE Select | ENSP00000358307.3:p.Asp75Val | |
| ENST00000468890.1:n.273A>T | ||
| NM_198514.3:c.224A>T | NP_940916.2:p.Asp75Val | |
| XM_011539769.1:c.224A>T | XP_011538071.1:p.Asp75Val | |
| XM_011539769.3:c.224A>T | XP_011538071.1:p.Asp75Val | |
| NM_198514.4:c.224A>T MANE Select | NP_940916.2:p.Asp75Val |