Linked Data
ClinVar Variation Id:
46377
dbSNP Id:
rs201733037
ExAC:
5:89990155 C / T
gnomAD v2:
5-89990155-C-T
gnomAD v3:
5-90694338-C-T
gnomAD v4:
5-90694338-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90694338C>T , CM000667.2:g.90694338C>T | GRCh38 |
| NC_000005.9:g.89990155C>T , CM000667.1:g.89990155C>T | GRCh37 |
| NC_000005.8:g.90025911C>T | NCBI36 |
| NG_007083.1:g.140539C>T | |
| NG_007083.2:g.169995C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.7582C>T MANE Select | ENSP00000384582.2:p.Pro2528Ser | |
| ENST00000639431.1:c.265+18129C>T | ENSP00000491057.1:n.265+18129C>T | |
| ENST00000639473.1:n.3041C>T | ||
| ENST00000640012.1:c.1389C>T | ||
| ENST00000640374.1:n.726C>T | ||
| ENST00000640403.1:c.4873C>T | ENSP00000492531.1:p.Pro1625Ser | |
| ENST00000640779.1:c.2311C>T | ||
| ENST00000405460.6:c.7582C>T | ENSP00000384582.2:p.Pro2528Ser | |
| ENST00000509621.1:c.279C>T | ||
| NM_032119.3:c.7582C>T | NP_115495.3:p.Pro2528Ser | |
| NR_003149.1:n.7595C>T | ||
| XM_011543675.1:c.7579C>T | XP_011541977.1:p.Pro2527Ser | |
| XM_011543676.1:c.7501C>T | XP_011541978.1:p.Pro2501Ser | |
| XM_011543677.1:c.4885C>T | XP_011541979.1:p.Pro1629Ser | |
| XM_011543678.1:c.7582C>T | XP_011541980.1:p.Pro2528Ser | |
| XM_011543679.1:c.7582C>T | XP_011541981.1:p.Pro2528Ser | |
| NM_032119.4:c.7582C>T MANE Select | NP_115495.3:p.Pro2528Ser | |
| XM_017009963.2:c.7582C>T | XP_016865452.1:p.Pro2528Ser | |
| XM_017009964.2:c.7579C>T | XP_016865453.1:p.Pro2527Ser | |
| XM_017009965.1:c.7579C>T | XP_016865454.1:p.Pro2527Ser | |
| XM_017009966.2:c.7501C>T | XP_016865455.1:p.Pro2501Ser | |
| XM_017009967.1:c.7486C>T | XP_016865456.1:p.Pro2496Ser | |
| XM_017009968.2:c.7582C>T | XP_016865457.1:p.Pro2528Ser | |
| XM_017009969.2:c.7582C>T | XP_016865458.1:p.Pro2528Ser | |
| XM_017009970.2:c.7582C>T | XP_016865459.1:p.Pro2528Ser | |
| XM_017009971.2:c.7582C>T | XP_016865460.1:p.Pro2528Ser | |
| XM_017009972.1:c.700C>T | XP_016865461.1:p.Pro234Ser | |
| XM_017009973.1:c.700C>T | XP_016865462.1:p.Pro234Ser | |
| XM_017009974.2:c.7582C>T | XP_016865463.1:p.Pro2528Ser | |
| NR_003149.2:n.7598C>T |