Linked Data
ClinVar Variation Id:
370376
ClinVar RCV Id:
RCV000409752
dbSNP Id:
rs1057516440
COSMIC:
COSM729508
PubMed:
PMID:15059618
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15601895G>A , CM000665.2:g.15601895G>A | GRCh38 |
| NC_000003.11:g.15643402G>A , CM000665.1:g.15643402G>A | GRCh37 |
| NC_000003.10:g.15618406G>A | NCBI36 |
| NG_008019.1:g.5148G>A | |
| NG_008019.2:g.5544G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000671928.2:c.-17+1G>A | ENSP00000500069.2:n.-17+1G>A | |
| ENST00000672892.2:c.-17+1G>A | ENSP00000499944.2:n.-17+1G>A | |
| ENST00000303498.10:c.-293+1G>A | ENSP00000306477.6:n.-293+1G>A | |
| ENST00000417015.3:c.-17+1G>A | ENSP00000403775.3:n.-17+1G>A | |
| ENST00000427382.2:c.-17+248G>A | ENSP00000397113.2:n.-17+248G>A | |
| ENST00000437172.6:c.-205+1G>A | ENSP00000400995.2:n.-205+1G>A | |
| ENST00000449107.7:c.-17+125G>A | ENSP00000388212.2:n.-17+125G>A | |
| ENST00000467027.6:n.132G>A | ||
| ENST00000643237.3:c.-17+1G>A MANE Select | ENSP00000495254.2:n.-17+1G>A | |
| ENST00000646371.1:c.-293+125G>A | ENSP00000495866.1:n.-293+125G>A | |
| ENST00000672065.1:c.44+1G>A | ENSP00000500403.1:n.44+1G>A | |
| ENST00000672112.1:c.-139+1G>A | ENSP00000500193.1:n.-139+1G>A | |
| ENST00000672141.1:c.-17+1G>A | ENSP00000500210.1:n.-17+1G>A | |
| ENST00000672336.1:c.-708G>A | ENSP00000500267.1:n.-708G>A | |
| ENST00000672427.1:c.-17+1G>A | ENSP00000500131.1:n.-17+1G>A | |
| ENST00000672760.1:c.-17+1G>A | ENSP00000500530.1:n.-17+1G>A | |
| ENST00000672968.1:n.20+125G>A | ||
| ENST00000673467.1:c.-17+1G>A | ENSP00000500288.1:n.-17+1G>A | |
| ENST00000673620.1:c.-17+125G>A | ENSP00000500325.1:n.-17+125G>A | |
| ENST00000303498.9:c.44+1G>A | ENSP00000306477.5:n.44+1G>A | |
| ENST00000417015.1:c.*295+1G>A | ENSP00000403775.1:n.*295+1G>A | |
| ENST00000427382.1:c.-17+248G>A | ENSP00000397113.1:n.-17+248G>A | |
| ENST00000437172.5:c.-139+1G>A | ENSP00000400995.1:n.-139+1G>A | |
| ENST00000449107.5:c.50+125G>A | ENSP00000388212.1:n.50+125G>A | |
| ENST00000467027.5:n.94+1G>A | ||
| ENST00000471964.5:n.124+1G>A | ||
| ENST00000480711.1:n.147+1G>A | ||
| ENST00000494021.1:n.401+125G>A | ||
| NM_000060.3:c.44+1G>A | NP_000051.1:n.44+1G>A | |
| NM_001281723.1:c.50+125G>A | NP_001268652.1:n.50+125G>A | |
| NM_001281724.1:c.-139+1G>A | NP_001268653.1:n.-139+1G>A | |
| NM_001281726.1:c.44+1G>A | NP_001268655.1:n.44+1G>A | |
| XM_006713314.2:c.-293+1G>A | XP_006713377.1:n.-293+1G>A | |
| XM_011534041.1:c.-191+1G>A | XP_011532343.1:n.-191+1G>A | |
| NM_000060.4:c.44+1G>A | NP_000051.1:n.44+1G>A | |
| NM_001281723.2:c.50+125G>A | NP_001268652.1:n.50+125G>A | |
| NM_001281724.2:c.-139+1G>A | NP_001268653.1:n.-139+1G>A | |
| NM_001323582.1:c.-293+1G>A | NP_001310511.1:n.-293+1G>A | |
| XM_011534041.2:c.-191+1G>A | XP_011532343.1:n.-191+1G>A | |
| XM_017007088.1:c.-467+1G>A | XP_016862577.1:n.-467+1G>A | |
| NM_001281723.3:c.-17+125G>A | NP_001268652.2:n.-17+125G>A | |
| NM_001281724.3:c.-205+1G>A | NP_001268653.2:n.-205+1G>A | |
| NM_001370658.1:c.-17+1G>A MANE Select | NP_001357587.1:n.-17+1G>A | |
| NM_001370752.1:c.-17+1G>A | NP_001357681.1:n.-17+1G>A | |
| NM_001370753.1:c.-17+1G>A | NP_001357682.1:n.-17+1G>A | |
| NM_001281726.2:c.-17+1G>A | NP_001268655.2:n.-17+1G>A |