Linked Data
ClinVar Variation Id:
323294
dbSNP Id:
rs559674042
ExAC:
17:40688638 C / T
gnomAD v2:
17-40688638-C-T
gnomAD v3:
17-42536620-C-T
gnomAD v4:
17-42536620-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536620C>T , CM000679.2:g.42536620C>T | GRCh38 |
| NC_000017.10:g.40688638C>T , CM000679.1:g.40688638C>T | GRCh37 |
| NC_000017.9:g.37942164C>T | NCBI36 |
| NG_011552.1:g.5688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.348C>T MANE Select | ENSP00000225927.1:p.Ala116= | |
| ENST00000225927.6:c.348C>T | ENSP00000225927.1:p.Ala116= | |
| ENST00000586516.5:c.98C>T | ||
| ENST00000591587.1:c.91C>T | ENSP00000467836.1:p.Arg31Cys | |
| NM_000263.3:c.348C>T | NP_000254.2:p.Ala116= | |
| XM_006721920.2:c.-395C>T | XP_006721983.1:n.-395C>T | |
| XM_011524840.1:c.-395C>T | XP_011523142.1:n.-395C>T | |
| XM_024450771.1:c.348C>T | XP_024306539.1:p.Ala116= | |
| NM_000263.4:c.348C>T MANE Select | NP_000254.2:p.Ala116= |