Linked Data
ClinVar Variation Id:
354008
ClinVar RCV Id:
RCV000341857
dbSNP Id:
rs4647155
gnomAD v2:
5-60170003-C-A
gnomAD v3:
5-60874176-C-A
gnomAD v4:
5-60874176-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60874176C>A , CM000667.2:g.60874176C>A | GRCh38 |
| NC_000005.9:g.60170003C>A , CM000667.1:g.60170003C>A | GRCh37 |
| NC_000005.8:g.60205760C>A | NCBI36 |
| NG_009289.1:g.75903G>T , LRG_466:g.75903G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439176.6:c.*439G>T | ENSP00000408344.2:n.*439G>T | |
| ENST00000647431.2:c.1731G>T | ENSP00000494726.2:n.1731G>T | |
| ENST00000675042.2:c.*439G>T | ENSP00000502082.2:n.*439G>T | |
| ENST00000675452.2:c.*1595G>T | ENSP00000506954.1:n.*1595G>T | |
| ENST00000682217.1:c.*439G>T | ENSP00000507570.1:n.*439G>T | |
| ENST00000682375.1:c.*1460G>T | ENSP00000507551.1:n.*1460G>T | |
| ENST00000683052.1:c.1432G>T | ENSP00000507072.1:n.1432G>T | |
| ENST00000683216.1:n.5267G>T | ||
| ENST00000683460.1:c.*3067G>T | ENSP00000507820.1:n.*3067G>T | |
| ENST00000265038.10:c.*439G>T | ENSP00000265038.6:n.*439G>T | |
| ENST00000643034.1:c.*1522G>T | ENSP00000496080.1:n.*1522G>T | |
| ENST00000643708.1:c.*1460G>T | ENSP00000494199.1:n.*1460G>T | |
| ENST00000647431.1:c.1682G>T | ||
| ENST00000675378.1:c.*631G>T | ENSP00000502535.1:n.*631G>T | |
| ENST00000675452.1:n.1879G>T | ||
| ENST00000676185.1:c.*439G>T MANE Select | ENSP00000501614.1:n.*439G>T | |
| ENST00000265038.9:c.*439G>T | ENSP00000265038.5:n.*439G>T | |
| ENST00000381118.7:c.*1674G>T | ENSP00000370510.3:n.*1674G>T | |
| ENST00000462279.5:n.3082G>T | ||
| NM_000082.3:c.*439G>T , LRG_466t1:c.*439G>T | NP_000073.1:n.*439G>T | |
| NM_001007233.2:c.*439G>T | NP_001007234.1:n.*439G>T | |
| NM_001290285.1:c.*439G>T | NP_001277214.1:n.*439G>T | |
| NM_000082.4:c.*439G>T MANE Select | NP_000073.1:n.*439G>T | |
| NM_001007233.3:c.*439G>T | NP_001007234.1:n.*439G>T | |
| NM_001290285.2:c.*439G>T | NP_001277214.1:n.*439G>T |