Linked Data
ClinVar Variation Id:
66359
ClinVar RCV Id:
RCV000056730
dbSNP Id:
rs1555603282
gnomAD v4:
17-41586437-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586437A>G , CM000679.2:g.41586437A>G | GRCh38 |
| NC_000017.10:g.39742689A>G , CM000679.1:g.39742689A>G | GRCh37 |
| NC_000017.9:g.36996215A>G | NCBI36 |
| NG_008624.1:g.5459T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.398T>C MANE Select | ENSP00000167586.6:p.Val133Ala | |
| ENST00000167586.6:c.398T>C | ENSP00000167586.6:p.Val133Ala | |
| NM_000526.4:c.398T>C | NP_000517.2:p.Val133Ala | |
| NM_000526.5:c.398T>C MANE Select | NP_000517.3:p.Val133Ala |