Linked Data
ClinVar Variation Id:
16753
ClinVar RCV Id:
RCV003447084
dbSNP Id:
rs121434563
PubMed:
PMID:17717711
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62813404C>T , CM000672.2:g.62813404C>T | GRCh38 |
| NC_000010.10:g.64573164C>T , CM000672.1:g.64573164C>T | GRCh37 |
| NC_000010.9:g.64243170C>T | NCBI36 |
| NG_008936.2:g.111497G>A , LRG_239:g.111497G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411732.4:c.1084G>A | ENSP00000387634.1:p.Glu362Lys | |
| ENST00000439032.6:c.1774G>A | ENSP00000509775.1:n.1774G>A | |
| ENST00000637191.2:c.1234G>A | ENSP00000490154.2:p.Glu412Lys | |
| ENST00000690143.1:c.*1166G>A | ENSP00000510306.1:n.*1166G>A | |
| ENST00000691610.1:c.1273G>A | ENSP00000509830.1:p.Glu425Lys | |
| ENST00000242480.4:c.1234G>A MANE Select | ENSP00000242480.3:p.Glu412Lys | |
| ENST00000411732.3:c.1084G>A | ENSP00000387634.1:p.Glu362Lys | |
| ENST00000639815.1:n.109-442G>A | ||
| ENST00000242480.3:c.1234G>A | ENSP00000242480.3:p.Glu412Lys | |
| ENST00000411732.2:c.1084G>A | ENSP00000387634.1:p.Glu362Lys | |
| ENST00000439032.4:c.1234G>A | ENSP00000402040.1:p.Glu412Lys | |
| NM_000399.3:c.1234G>A , LRG_239t1:c.1234G>A | NP_000390.2:p.Glu412Lys | |
| NM_001136177.1:c.1234G>A | NP_001129649.1:p.Glu412Lys | |
| NM_001136178.1:c.1234G>A | NP_001129650.1:p.Glu412Lys | |
| NM_001136179.1:c.1084G>A | NP_001129651.1:p.Glu362Lys | |
| XM_011539427.1:c.1273G>A | XP_011537729.1:p.Glu425Lys | |
| XM_011539428.1:c.1084G>A | XP_011537730.1:p.Glu362Lys | |
| XM_011539429.1:c.1084G>A | XP_011537731.1:p.Glu362Lys | |
| NM_000399.4:c.1234G>A | NP_000390.2:p.Glu412Lys | |
| NM_001136177.2:c.1234G>A | NP_001129649.1:p.Glu412Lys | |
| NM_001136179.2:c.1084G>A | NP_001129651.1:p.Glu362Lys | |
| NM_001321037.1:c.1084G>A | NP_001307966.1:p.Glu362Lys | |
| NM_000399.5:c.1234G>A MANE Select | NP_000390.2:p.Glu412Lys | |
| NM_001136177.3:c.1234G>A | NP_001129649.1:p.Glu412Lys | |
| NM_001136179.3:c.1084G>A | NP_001129651.1:p.Glu362Lys | |
| NM_001321037.2:c.1084G>A | NP_001307966.1:p.Glu362Lys | |
| NM_001136178.2:c.1234G>A | NP_001129650.1:p.Glu412Lys |