Linked Data
ClinVar Variation Id:
1704535
ClinVar RCV Id:
RCV002282862
dbSNP Id:
rs587640965
ExAC:
6:112390771 A / T
gnomAD v2:
6-112390771-A-T
gnomAD v3:
6-112069568-A-T
gnomAD v4:
6-112069568-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112069568A>T , CM000668.2:g.112069568A>T | GRCh38 |
| NC_000006.11:g.112390771A>T , CM000668.1:g.112390771A>T | GRCh37 |
| NC_000006.10:g.112497464A>T | NCBI36 |
| NG_011748.1:g.20494A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.1013A>T MANE Select | ENSP00000357655.4:p.Gln338Leu | |
| ENST00000639360.1:c.914A>T | ENSP00000491774.1:p.Gln305Leu | |
| ENST00000230529.9:c.1013A>T | ENSP00000230529.5:p.Gln338Leu | |
| ENST00000361714.5:c.1013A>T | ENSP00000354734.2:p.Gln338Leu | |
| ENST00000368663.4:c.*319A>T | ENSP00000357652.4:n.*319A>T | |
| ENST00000368664.7:c.*417A>T | ENSP00000357653.3:n.*417A>T | |
| ENST00000368666.6:c.1067A>T | ENSP00000357655.3:p.Gln356Leu | |
| ENST00000409166.5:c.341A>T | ENSP00000386467.1:p.Gln114Leu | |
| ENST00000454589.5:c.*417A>T | ENSP00000395928.1:n.*417A>T | |
| ENST00000604763.5:c.1013A>T | ENSP00000473777.1:p.Gln338Leu | |
| ENST00000613648.1:n.848A>T | ||
| ENST00000620524.3:n.944A>T | ||
| NM_003880.3:c.1013A>T | NP_003871.1:p.Gln338Leu | |
| NM_198239.1:c.1067A>T | NP_937882.1:p.Gln356Leu | |
| NR_125353.1:n.1267A>T | ||
| NR_125354.1:n.1187A>T | ||
| XM_011536220.1:c.1013A>T | XP_011534522.1:p.Gln338Leu | |
| XM_011536221.1:c.*417A>T | XP_011534523.1:n.*417A>T | |
| XM_011536223.1:c.431A>T | XP_011534525.1:p.Gln144Leu | |
| XM_011536223.3:c.431A>T | XP_011534525.1:p.Gln144Leu | |
| XR_001743705.1:n.1615A>T | ||
| NM_003880.4:c.1013A>T | NP_003871.1:p.Gln338Leu | |
| NM_198239.2:c.1013A>T MANE Select | NP_937882.2:p.Gln338Leu | |
| NR_125353.2:n.1331A>T | ||
| NR_125354.3:n.1158A>T |