Linked Data
ClinVar Variation Id:
1918605
ClinVar RCV Id:
RCV002630092
dbSNP Id:
rs559674042
gnomAD v4:
17-42536620-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536620C>A , CM000679.2:g.42536620C>A | GRCh38 |
| NC_000017.10:g.40688638C>A , CM000679.1:g.40688638C>A | GRCh37 |
| NC_000017.9:g.37942164C>A | NCBI36 |
| NG_011552.1:g.5688C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.348C>A MANE Select | ENSP00000225927.1:p.Ala116= | |
| ENST00000225927.6:c.348C>A | ENSP00000225927.1:p.Ala116= | |
| ENST00000586516.5:c.98C>A | ||
| ENST00000591587.1:c.91C>A | ENSP00000467836.1:p.Arg31Ser | |
| NM_000263.3:c.348C>A | NP_000254.2:p.Ala116= | |
| XM_006721920.2:c.-395C>A | XP_006721983.1:n.-395C>A | |
| XM_011524840.1:c.-395C>A | XP_011523142.1:n.-395C>A | |
| XM_024450771.1:c.348C>A | XP_024306539.1:p.Ala116= | |
| NM_000263.4:c.348C>A MANE Select | NP_000254.2:p.Ala116= |