Linked Data
ClinVar Variation Id:
2050837
ClinVar RCV Id:
RCV002922108
dbSNP Id:
rs762507383
ExAC:
1:25883764 C / T
gnomAD v2:
1-25883764-C-T
gnomAD v3:
1-25557273-C-T
gnomAD v4:
1-25557273-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25557273C>T , CM000663.2:g.25557273C>T | GRCh38 |
| NC_000001.10:g.25883764C>T , CM000663.1:g.25883764C>T | GRCh37 |
| NC_000001.9:g.25756351C>T | NCBI36 |
| NG_008932.1:g.18689C>T , LRG_276:g.18689C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374338.5:c.459+6C>T MANE Select | ENSP00000363458.4:n.459+6C>T | |
| ENST00000374338.4:c.459+6C>T | ENSP00000363458.4:n.459+6C>T | |
| ENST00000462394.1:n.213C>T | ||
| ENST00000488127.1:n.929+6C>T | ||
| NM_015627.2:c.459+6C>T , LRG_276t1:c.459+6C>T | NP_056442.2:n.459+6C>T | |
| XM_006710559.2:c.459+6C>T | XP_006710622.1:n.459+6C>T | |
| XM_006710560.2:c.459+6C>T | XP_006710623.1:n.459+6C>T | |
| XM_006710561.2:c.459+6C>T | XP_006710624.1:n.459+6C>T | |
| XM_011541209.1:c.459+6C>T | XP_011539511.1:n.459+6C>T | |
| XM_011541210.1:c.459+6C>T | XP_011539512.1:n.459+6C>T | |
| XM_011541211.1:c.459+6C>T | XP_011539513.1:n.459+6C>T | |
| XM_011541212.1:c.459+6C>T | XP_011539514.1:n.459+6C>T | |
| XR_426598.2:n.578+6C>T | ||
| XR_946602.1:n.578+6C>T | ||
| XR_946603.1:n.578+6C>T | ||
| XM_006710559.4:c.459+6C>T | XP_006710622.1:n.459+6C>T | |
| XM_006710560.4:c.459+6C>T | XP_006710623.1:n.459+6C>T | |
| XM_006710561.4:c.459+6C>T | XP_006710624.1:n.459+6C>T | |
| XM_011541209.3:c.459+6C>T | XP_011539511.1:n.459+6C>T | |
| XM_011541210.3:c.459+6C>T | XP_011539512.1:n.459+6C>T | |
| XM_011541211.3:c.459+6C>T | XP_011539513.1:n.459+6C>T | |
| XM_011541212.3:c.459+6C>T | XP_011539514.1:n.459+6C>T | |
| XM_017000994.2:c.378+6C>T | XP_016856483.1:n.378+6C>T | |
| XM_017000995.2:c.459+6C>T | XP_016856484.1:n.459+6C>T | |
| XM_024446315.1:c.324+6C>T | XP_024302083.1:n.324+6C>T | |
| XR_001737112.2:n.529+6C>T | ||
| XR_001737113.2:n.529+6C>T | ||
| XR_002956258.1:n.529+6C>T | ||
| XR_426598.4:n.529+6C>T | ||
| XR_946602.3:n.529+6C>T | ||
| XR_946603.3:n.529+6C>T | ||
| NM_015627.3:c.459+6C>T MANE Select | NP_056442.2:n.459+6C>T |