Linked Data
ClinVar Variation Id:
13568
dbSNP Id:
rs79775494
gnomAD v2:
17-45364494-A-T
gnomAD v3:
17-47287128-A-T
gnomAD v4:
17-47287128-A-T
PubMed:
PMID:20020534
ERepo:
CA123254/MONDO:0100326/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47287128A>T , CM000679.2:g.47287128A>T | GRCh38 |
| NC_000017.10:g.45364494A>T , CM000679.1:g.45364494A>T | GRCh37 |
| NC_000017.9:g.42719493A>T | NCBI36 |
| NG_008332.2:g.38287A>T , LRG_481:g.38287A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.836A>T | ENSP00000513002.1:p.Lys279Met | |
| ENST00000559488.7:c.836A>T MANE Select | ENSP00000452786.2:p.Lys279Met | |
| ENST00000559488.5:c.836A>T | ENSP00000452786.1:p.Lys279Met | |
| ENST00000560629.1:c.801A>T | ||
| ENST00000571680.1:c.836A>T | ENSP00000461626.1:p.Lys279Met | |
| NM_000212.2:c.836A>T , LRG_481t1:c.836A>T | NP_000203.2:p.Lys279Met | |
| NM_000212.3:c.836A>T MANE Select | NP_000203.2:p.Lys279Met |