Linked Data
ClinVar Variation Id:
343913
ClinVar RCV Id:
RCV000270145
dbSNP Id:
rs780182371
ExAC:
3:15686848 C / A
gnomAD v2:
3-15686848-C-A
gnomAD v3:
3-15645341-C-A
gnomAD v4:
3-15645341-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15645341C>A , CM000665.2:g.15645341C>A | GRCh38 |
| NC_000003.11:g.15686848C>A , CM000665.1:g.15686848C>A | GRCh37 |
| NC_000003.10:g.15661852C>A | NCBI36 |
| NG_008019.1:g.48594C>A | |
| NG_008019.2:g.48990C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436193.6:c.1425C>A | ENSP00000394277.2:p.Ile475= | |
| ENST00000671928.2:c.399+3284C>A | ENSP00000500069.2:n.399+3284C>A | |
| ENST00000672892.2:c.1015+410C>A | ENSP00000499944.2:n.1015+410C>A | |
| ENST00000303498.10:c.1425C>A | ENSP00000306477.6:p.Ile475= | |
| ENST00000427382.2:c.1425C>A | ENSP00000397113.2:p.Ile475= | |
| ENST00000437172.6:c.1425C>A | ENSP00000400995.2:p.Ile475= | |
| ENST00000449107.7:c.1425C>A | ENSP00000388212.2:p.Ile475= | |
| ENST00000643237.3:c.1425C>A MANE Select | ENSP00000495254.2:p.Ile475= | |
| ENST00000646371.1:c.1425C>A | ENSP00000495866.1:p.Ile475= | |
| ENST00000671928.1:c.165+3284C>A | ENSP00000500069.1:n.165+3284C>A | |
| ENST00000672065.1:c.1485C>A | ENSP00000500403.1:p.Ile495= | |
| ENST00000672112.1:c.1491C>A | ENSP00000500193.1:p.Ile497= | |
| ENST00000672141.1:c.399+3284C>A | ENSP00000500210.1:n.399+3284C>A | |
| ENST00000672427.1:c.1015+410C>A | ENSP00000500131.1:n.1015+410C>A | |
| ENST00000672760.1:c.399+3284C>A | ENSP00000500530.1:n.399+3284C>A | |
| ENST00000672892.1:c.793+410C>A | ENSP00000499944.1:n.793+410C>A | |
| ENST00000673467.1:c.399+3284C>A | ENSP00000500288.1:n.399+3284C>A | |
| ENST00000673620.1:c.399+3284C>A | ENSP00000500325.1:n.399+3284C>A | |
| ENST00000303498.9:c.1485C>A | ENSP00000306477.5:p.Ile495= | |
| ENST00000383778.5:c.1425C>A | ENSP00000373288.4:p.Ile475= | |
| ENST00000437172.5:c.1491C>A | ENSP00000400995.1:p.Ile497= | |
| ENST00000449107.5:c.1491C>A | ENSP00000388212.1:p.Ile497= | |
| NM_000060.3:c.1485C>A | NP_000051.1:p.Ile495= | |
| NM_001281723.1:c.1491C>A | NP_001268652.1:p.Ile497= | |
| NM_001281724.1:c.1491C>A | NP_001268653.1:p.Ile497= | |
| NM_001281725.1:c.1425C>A | NP_001268654.1:p.Ile475= | |
| XM_006713314.2:c.1425C>A | XP_006713377.1:p.Ile475= | |
| XM_011534041.1:c.1425C>A | XP_011532343.1:p.Ile475= | |
| NM_000060.4:c.1485C>A | NP_000051.1:p.Ile495= | |
| NM_001281723.2:c.1491C>A | NP_001268652.1:p.Ile497= | |
| NM_001281724.2:c.1491C>A | NP_001268653.1:p.Ile497= | |
| NM_001281725.2:c.1425C>A | NP_001268654.1:p.Ile475= | |
| NM_001323582.1:c.1425C>A | NP_001310511.1:p.Ile475= | |
| XM_011534041.2:c.1425C>A | XP_011532343.1:p.Ile475= | |
| XM_017007088.1:c.1425C>A | XP_016862577.1:p.Ile475= | |
| XM_024453724.1:c.1425C>A | XP_024309492.1:p.Ile475= | |
| NM_001281723.3:c.1425C>A | NP_001268652.2:p.Ile475= | |
| NM_001281724.3:c.1425C>A | NP_001268653.2:p.Ile475= | |
| NM_001370658.1:c.1425C>A MANE Select | NP_001357587.1:p.Ile475= | |
| NM_001370752.1:c.1015+410C>A | NP_001357681.1:n.1015+410C>A | |
| NM_001370753.1:c.399+3284C>A | NP_001357682.1:n.399+3284C>A | |
| NM_001281726.2:c.*3203C>A | NP_001268655.2:n.*3203C>A |