Linked Data
ClinVar Variation Id:
46260
dbSNP Id:
rs200805176
ExAC:
5:90072342 A / C
gnomAD v2:
5-90072342-A-C
gnomAD v3:
5-90776525-A-C
gnomAD v4:
5-90776525-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90776525A>C , CM000667.2:g.90776525A>C | GRCh38 |
| NC_000005.9:g.90072342A>C , CM000667.1:g.90072342A>C | GRCh37 |
| NC_000005.8:g.90108098A>C | NCBI36 |
| NG_007083.1:g.222726A>C | |
| NG_007083.2:g.252182A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12476A>C MANE Select | ENSP00000384582.2:p.His4159Pro | |
| ENST00000425867.3:c.1430A>C | ENSP00000392618.3:p.His477Pro | |
| ENST00000639431.1:c.265+100316A>C | ENSP00000491057.1:n.265+100316A>C | |
| ENST00000640464.1:n.2895A>C | ||
| ENST00000640729.1:n.1053A>C | ||
| ENST00000405460.6:c.12476A>C | ENSP00000384582.2:p.His4159Pro | |
| NM_032119.3:c.12476A>C | NP_115495.3:p.His4159Pro | |
| NR_003149.1:n.12489A>C | ||
| XM_011543675.1:c.12473A>C | XP_011541977.1:p.His4158Pro | |
| XM_011543676.1:c.12395A>C | XP_011541978.1:p.His4132Pro | |
| XM_011543677.1:c.9779A>C | XP_011541979.1:p.His3260Pro | |
| XM_011543678.1:c.12476A>C | XP_011541980.1:p.His4159Pro | |
| NM_032119.4:c.12476A>C MANE Select | NP_115495.3:p.His4159Pro | |
| XM_017009963.2:c.12497A>C | XP_016865452.1:p.His4166Pro | |
| XM_017009964.2:c.12494A>C | XP_016865453.1:p.His4165Pro | |
| XM_017009965.1:c.12494A>C | XP_016865454.1:p.His4165Pro | |
| XM_017009966.2:c.12416A>C | XP_016865455.1:p.His4139Pro | |
| XM_017009967.1:c.12401A>C | XP_016865456.1:p.His4134Pro | |
| XM_017009968.2:c.12497A>C | XP_016865457.1:p.His4166Pro | |
| XM_017009969.2:c.12497A>C | XP_016865458.1:p.His4166Pro | |
| XM_017009970.2:c.12497A>C | XP_016865459.1:p.His4166Pro | |
| XM_017009971.2:c.12497A>C | XP_016865460.1:p.His4166Pro | |
| XM_017009972.1:c.5615A>C | XP_016865461.1:p.His1872Pro | |
| XM_017009973.1:c.5594A>C | XP_016865462.1:p.His1865Pro | |
| NR_003149.2:n.12492A>C |