Linked Data
ClinVar Variation Id:
2428661
ClinVar RCV Id:
RCV003120262
dbSNP Id:
rs550566734
ExAC:
17:42332037 G / A
gnomAD v2:
17-42332037-G-A
gnomAD v3:
17-44254669-G-A
gnomAD v4:
17-44254669-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44254669G>A , CM000679.2:g.44254669G>A | GRCh38 |
| NC_000017.10:g.42332037G>A , CM000679.1:g.42332037G>A | GRCh37 |
| NC_000017.9:g.39687563G>A | NCBI36 |
| NG_007498.1:g.18466C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.1891-7C>T MANE Select | ENSP00000262418.6:n.1891-7C>T | |
| ENST00000262418.10:c.1891-7C>T | ENSP00000262418.6:n.1891-7C>T | |
| ENST00000399246.3:c.793-7C>T | ENSP00000382190.3:n.793-7C>T | |
| NM_000342.3:c.1891-7C>T | NP_000333.1:n.1891-7C>T | |
| XM_005257593.3:c.1696-7C>T | XP_005257650.1:n.1696-7C>T | |
| XM_011525129.1:c.1801-7C>T | XP_011523431.1:n.1801-7C>T | |
| XM_011525130.1:c.1891-7C>T | XP_011523432.1:n.1891-7C>T | |
| XM_011525131.1:c.1891-7C>T | XP_011523433.1:n.1891-7C>T | |
| XM_005257593.5:c.1696-7C>T | XP_005257650.1:n.1696-7C>T | |
| XM_011525129.2:c.1801-7C>T | XP_011523431.1:n.1801-7C>T | |
| NM_000342.4:c.1891-7C>T MANE Select | NP_000333.1:n.1891-7C>T |