Linked Data
ClinVar Variation Id:
126996
dbSNP Id:
rs104895044
ExAC:
5:131915137 C / A
gnomAD v2:
5-131915137-C-A
gnomAD v3:
5-132579445-C-A
gnomAD v4:
5-132579445-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132579445C>A , CM000667.2:g.132579445C>A | GRCh38 |
| NC_000005.9:g.131915137C>A , CM000667.1:g.131915137C>A | GRCh37 |
| NC_000005.8:g.131943036C>A | NCBI36 |
| NG_021151.1:g.27522C>A | |
| NG_021151.2:g.27469C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.494C>A MANE Select | ENSP00000368100.4:p.Pro165His | |
| ENST00000638452.2:c.197C>A | ENSP00000492349.2:p.Pro66His | |
| ENST00000638504.1:n.442+3517C>A | ||
| ENST00000638568.2:c.197C>A | ENSP00000491158.2:p.Pro66His | |
| ENST00000639899.1:n.654C>A | ||
| ENST00000640655.2:c.197C>A | ENSP00000491596.2:p.Pro66His | |
| ENST00000651160.1:c.494C>A | ENSP00000498829.1:p.Pro165His | |
| ENST00000651541.1:c.197C>A | ENSP00000498795.1:p.Pro66His | |
| ENST00000651658.1:n.562C>A | ||
| ENST00000651723.1:c.*577C>A | ENSP00000498237.1:n.*577C>A | |
| ENST00000652016.1:c.494C>A | ENSP00000498267.1:p.Pro165His | |
| ENST00000652485.1:c.494C>A | ENSP00000498973.1:p.Pro165His | |
| ENST00000378823.7:c.494C>A | ENSP00000368100.4:p.Pro165His | |
| ENST00000416135.5:c.197C>A | ENSP00000389515.1:p.Pro66His | |
| ENST00000423956.5:c.494C>A | ENSP00000390971.1:p.Pro165His | |
| ENST00000453394.5:c.494C>A | ENSP00000400049.1:p.Pro165His | |
| ENST00000533482.5:c.*120C>A | ENSP00000431225.1:n.*120C>A | |
| NM_005732.3:c.494C>A | NP_005723.2:p.Pro165His | |
| NM_005732.4:c.494C>A MANE Select | NP_005723.2:p.Pro165His |