Linked Data
ClinVar Variation Id:
432348
dbSNP Id:
rs200957385
ExAC:
5:90073736 C / T
gnomAD v2:
5-90073736-C-T
gnomAD v3:
5-90777919-C-T
gnomAD v4:
5-90777919-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90777919C>T , CM000667.2:g.90777919C>T | GRCh38 |
| NC_000005.9:g.90073736C>T , CM000667.1:g.90073736C>T | GRCh37 |
| NC_000005.8:g.90109492C>T | NCBI36 |
| NG_007083.1:g.224120C>T | |
| NG_007083.2:g.253576C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12542C>T MANE Select | ENSP00000384582.2:p.Pro4181Leu | |
| ENST00000425867.3:c.1496C>T | ENSP00000392618.3:p.Pro499Leu | |
| ENST00000639431.1:c.265+101710C>T | ENSP00000491057.1:n.265+101710C>T | |
| ENST00000640464.1:n.2961C>T | ||
| ENST00000640729.1:n.1119C>T | ||
| ENST00000405460.6:c.12542C>T | ENSP00000384582.2:p.Pro4181Leu | |
| NM_032119.3:c.12542C>T | NP_115495.3:p.Pro4181Leu | |
| NR_003149.1:n.12555C>T | ||
| XM_011543675.1:c.12539C>T | XP_011541977.1:p.Pro4180Leu | |
| XM_011543676.1:c.12461C>T | XP_011541978.1:p.Pro4154Leu | |
| XM_011543677.1:c.9845C>T | XP_011541979.1:p.Pro3282Leu | |
| XM_011543678.1:c.12542C>T | XP_011541980.1:p.Pro4181Leu | |
| NM_032119.4:c.12542C>T MANE Select | NP_115495.3:p.Pro4181Leu | |
| XM_017009963.2:c.12563C>T | XP_016865452.1:p.Pro4188Leu | |
| XM_017009964.2:c.12560C>T | XP_016865453.1:p.Pro4187Leu | |
| XM_017009965.1:c.12560C>T | XP_016865454.1:p.Pro4187Leu | |
| XM_017009966.2:c.12482C>T | XP_016865455.1:p.Pro4161Leu | |
| XM_017009967.1:c.12467C>T | XP_016865456.1:p.Pro4156Leu | |
| XM_017009968.2:c.12563C>T | XP_016865457.1:p.Pro4188Leu | |
| XM_017009969.2:c.12563C>T | XP_016865458.1:p.Pro4188Leu | |
| XM_017009970.2:c.12563C>T | XP_016865459.1:p.Pro4188Leu | |
| XM_017009971.2:c.12563C>T | XP_016865460.1:p.Pro4188Leu | |
| XM_017009972.1:c.5681C>T | XP_016865461.1:p.Pro1894Leu | |
| XM_017009973.1:c.5660C>T | XP_016865462.1:p.Pro1887Leu | |
| NR_003149.2:n.12558C>T |