Linked Data
ClinVar Variation Id:
325964
ClinVar RCV Id:
RCV000302846
dbSNP Id:
rs763167274
ExAC:
17:8011781 G / A
gnomAD v2:
17-8011781-G-A
gnomAD v3:
17-8108463-G-A
gnomAD v4:
17-8108463-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8108463G>A , CM000679.2:g.8108463G>A | GRCh38 |
| NC_000017.10:g.8011781G>A , CM000679.1:g.8011781G>A | GRCh37 |
| NC_000017.9:g.7952506G>A | NCBI36 |
| NG_015807.1:g.15454C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318227.4:c.1684+5C>T | ENSP00000314879.4:n.1684+5C>T | |
| ENST00000380149.6:c.1684+5C>T | ENSP00000369494.2:n.1684+5C>T | |
| ENST00000448843.7:c.1684+5C>T MANE Select | ENSP00000400581.2:n.1684+5C>T | |
| ENST00000318227.3:c.2080+5C>T | ENSP00000314879.3:n.2080+5C>T | |
| ENST00000380149.5:c.2152+5C>T | ENSP00000369494.1:n.2152+5C>T | |
| ENST00000448843.6:c.1684+5C>T | ENSP00000400581.2:n.1684+5C>T | |
| NM_001165960.1:c.2080+5C>T | NP_001159432.1:n.2080+5C>T | |
| NM_021628.2:c.1684+5C>T | NP_067641.2:n.1684+5C>T | |
| XM_017024921.2:c.1684+5C>T | XP_016880410.1:n.1684+5C>T | |
| XM_017024922.2:c.1562+711C>T | XP_016880411.1:n.1562+711C>T | |
| XR_001752579.2:n.1835+711C>T | ||
| XR_001752580.2:n.1746+711C>T | ||
| NM_001369446.1:c.1681+5C>T | NP_001356375.1:n.1681+5C>T | |
| NM_021628.3:c.1684+5C>T MANE Select | NP_067641.2:n.1684+5C>T |