Linked Data
ClinVar Variation Id:
2933092
ClinVar RCV Id:
RCV003790210
dbSNP Id:
rs757187593
gnomAD v2:
7-128487888-C-A
gnomAD v4:
7-128847834-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128847834C>A , CM000669.2:g.128847834C>A | GRCh38 |
| NC_000007.13:g.128487888C>A , CM000669.1:g.128487888C>A | GRCh37 |
| NC_000007.12:g.128275124C>A | NCBI36 |
| NG_011807.1:g.22406C>A , LRG_870:g.22406C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.4426C>A MANE Select | ENSP00000327145.8:p.Pro1476Thr | |
| ENST00000325888.12:c.4426C>A | ENSP00000327145.8:p.Pro1476Thr | |
| ENST00000346177.6:c.4426C>A | ENSP00000344002.6:p.Pro1476Thr | |
| NM_001127487.1:c.4426C>A | NP_001120959.1:p.Pro1476Thr | |
| NM_001458.4:c.4426C>A , LRG_870t1:c.4426C>A | NP_001449.3:p.Pro1476Thr | |
| NM_001127487.2:c.4426C>A | NP_001120959.1:p.Pro1476Thr | |
| NM_001458.5:c.4426C>A MANE Select | NP_001449.3:p.Pro1476Thr |