Linked Data
ClinVar Variation Id:
45100
dbSNP Id:
rs189541861
ExAC:
1:41289826 C / T
gnomAD v2:
1-41289826-C-T
gnomAD v3:
1-40824154-C-T
gnomAD v4:
1-40824154-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40824154C>T , CM000663.2:g.40824154C>T | GRCh38 |
| NC_000001.10:g.41289826C>T , CM000663.1:g.41289826C>T | GRCh37 |
| NC_000001.9:g.41062413C>T | NCBI36 |
| NG_008139.1:g.45143C>T | |
| NG_008139.2:g.45143C>T | |
| NG_008139.3:g.45368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.1188C>T MANE Select | ENSP00000262916.6:p.Pro396= | |
| ENST00000347132.9:c.1188C>T | ENSP00000262916.6:p.Pro396= | |
| ENST00000443478.3:c.816+1752C>T | ||
| ENST00000506017.1:n.507C>T | ||
| ENST00000509682.6:c.1130+1752C>T | ENSP00000423756.2:n.1130+1752C>T | |
| NM_004700.3:c.1188C>T | NP_004691.2:p.Pro396= | |
| NM_172163.2:c.1130+1752C>T | NP_751895.1:n.1130+1752C>T | |
| XM_011542418.1:c.1130+1752C>T | XP_011540720.1:n.1130+1752C>T | |
| XM_011542419.1:c.1131-453C>T | XP_011540721.1:n.1131-453C>T | |
| XR_946798.1:n.1194C>T | ||
| XR_946799.1:n.1194C>T | ||
| XR_946800.1:n.1047+3894C>T | ||
| XM_017002792.1:c.171C>T | XP_016858281.1:p.Pro57= | |
| NM_004700.4:c.1188C>T MANE Select | NP_004691.2:p.Pro396= | |
| NM_172163.3:c.1130+1752C>T | NP_751895.1:n.1130+1752C>T |