Linked Data
ClinVar Variation Id:
163605
dbSNP Id:
rs576429729
ExAC:
5:90072329 C / T
gnomAD v2:
5-90072329-C-T
gnomAD v3:
5-90776512-C-T
gnomAD v4:
5-90776512-C-T
COSMIC:
COSM4399542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90776512C>T , CM000667.2:g.90776512C>T | GRCh38 |
| NC_000005.9:g.90072329C>T , CM000667.1:g.90072329C>T | GRCh37 |
| NC_000005.8:g.90108085C>T | NCBI36 |
| NG_007083.1:g.222713C>T | |
| NG_007083.2:g.252169C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.12463C>T MANE Select | ENSP00000384582.2:p.Pro4155Ser | |
| ENST00000425867.3:c.1417C>T | ENSP00000392618.3:p.Pro473Ser | |
| ENST00000639431.1:c.265+100303C>T | ENSP00000491057.1:n.265+100303C>T | |
| ENST00000640464.1:n.2882C>T | ||
| ENST00000640729.1:n.1040C>T | ||
| ENST00000405460.6:c.12463C>T | ENSP00000384582.2:p.Pro4155Ser | |
| NM_032119.3:c.12463C>T | NP_115495.3:p.Pro4155Ser | |
| NR_003149.1:n.12476C>T | ||
| XM_011543675.1:c.12460C>T | XP_011541977.1:p.Pro4154Ser | |
| XM_011543676.1:c.12382C>T | XP_011541978.1:p.Pro4128Ser | |
| XM_011543677.1:c.9766C>T | XP_011541979.1:p.Pro3256Ser | |
| XM_011543678.1:c.12463C>T | XP_011541980.1:p.Pro4155Ser | |
| NM_032119.4:c.12463C>T MANE Select | NP_115495.3:p.Pro4155Ser | |
| XM_017009963.2:c.12484C>T | XP_016865452.1:p.Pro4162Ser | |
| XM_017009964.2:c.12481C>T | XP_016865453.1:p.Pro4161Ser | |
| XM_017009965.1:c.12481C>T | XP_016865454.1:p.Pro4161Ser | |
| XM_017009966.2:c.12403C>T | XP_016865455.1:p.Pro4135Ser | |
| XM_017009967.1:c.12388C>T | XP_016865456.1:p.Pro4130Ser | |
| XM_017009968.2:c.12484C>T | XP_016865457.1:p.Pro4162Ser | |
| XM_017009969.2:c.12484C>T | XP_016865458.1:p.Pro4162Ser | |
| XM_017009970.2:c.12484C>T | XP_016865459.1:p.Pro4162Ser | |
| XM_017009971.2:c.12484C>T | XP_016865460.1:p.Pro4162Ser | |
| XM_017009972.1:c.5602C>T | XP_016865461.1:p.Pro1868Ser | |
| XM_017009973.1:c.5581C>T | XP_016865462.1:p.Pro1861Ser | |
| NR_003149.2:n.12479C>T |