Linked Data
ClinVar Variation Id:
2331421
ClinVar RCV Id:
RCV004176938
dbSNP Id:
rs944375371
gnomAD v4:
16-67195997-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67195997C>A , CM000678.2:g.67195997C>A | GRCh38 |
| NC_000016.9:g.67229900C>A , CM000678.1:g.67229900C>A | GRCh37 |
| NC_000016.8:g.65787401C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379378.8:c.1024C>A MANE Select | ENSP00000368686.3:p.Pro342Thr | |
| ENST00000379378.7:c.1024C>A | ENSP00000368686.3:p.Pro342Thr | |
| ENST00000565226.1:c.245C>A | ||
| ENST00000567007.5:n.1603C>A | ||
| ENST00000567228.1:n.347C>A | ||
| ENST00000568839.5:c.*474C>A | ENSP00000458082.1:n.*474C>A | |
| ENST00000569573.1:c.*452C>A | ENSP00000457239.1:n.*452C>A | |
| NM_001950.3:c.1024C>A | NP_001941.2:p.Pro342Thr | |
| XR_002957786.1:n.1092C>A | ||
| NM_001950.4:c.1024C>A MANE Select | NP_001941.2:p.Pro342Thr |