Linked Data
ClinVar Variation Id:
3172583
ClinVar RCV Id:
RCV004463506
dbSNP Id:
rs772200029
gnomAD v2:
6-10928661-T-C
gnomAD v3:
6-10928428-T-C
gnomAD v4:
6-10928428-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10928428T>C , CM000668.2:g.10928428T>C | GRCh38 |
| NC_000006.11:g.10928661T>C , CM000668.1:g.10928661T>C | GRCh37 |
| NC_000006.10:g.11036647T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283141.11:c.1466T>C MANE Select | ENSP00000283141.6:p.Val489Ala | |
| ENST00000283141.10:c.1466T>C | ENSP00000283141.6:p.Val489Ala | |
| ENST00000341041.8:c.*644T>C | ENSP00000340320.4:n.*644T>C | |
| ENST00000480294.1:c.*1275-1942T>C | ENSP00000417929.1:n.*1275-1942T>C | |
| ENST00000543878.5:c.1463T>C | ENSP00000440676.2:p.Val488Ala | |
| NM_001040274.2:c.1466T>C | NP_001035364.2:p.Val489Ala | |
| NM_001040274.3:c.1466T>C MANE Select | NP_001035364.2:p.Val489Ala |