Linked Data
ClinVar Variation Id:
13724
dbSNP Id:
rs1800454
ExAC:
6:32800412 C / T
gnomAD v2:
6-32800412-C-T
gnomAD v3:
6-32832635-C-T
gnomAD v4:
6-32832635-C-T
PubMed:
PMID:1570316
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32832635C>T , CM000668.2:g.32832635C>T | GRCh38 |
| NC_000006.11:g.32800412C>T , CM000668.1:g.32800412C>T | GRCh37 |
| NC_000006.10:g.32908390C>T | NCBI36 |
| NG_009793.3:g.11136G>A | |
| NG_009793.4:g.11136G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000485701.2:n.3538G>A | ||
| ENST00000698440.1:c.1135G>A | ENSP00000513722.1:p.Val379Ile | |
| ENST00000698441.1:c.1135G>A | ENSP00000513723.1:p.Val379Ile | |
| ENST00000698448.1:c.1135G>A | ENSP00000513733.1:p.Val379Ile | |
| ENST00000698449.1:c.1135G>A | ENSP00000513734.1:p.Val379Ile | |
| ENST00000705716.1:c.1135G>A | ENSP00000516164.1:p.Val379Ile | |
| ENST00000374897.4:c.1135G>A MANE Select | ENSP00000364032.3:p.Val379Ile | |
| ENST00000652259.1:c.1135G>A | ENSP00000498827.1:p.Val379Ile | |
| ENST00000374897.2:c.1135G>A | ENSP00000364032.2:p.Val379Ile | |
| ENST00000374899.8:c.1135G>A | ENSP00000364034.4:p.Val379Ile | |
| ENST00000452392.2:c.1135G>A | ENSP00000391806.2:p.Val379Ile | |
| ENST00000485701.1:n.99G>A | ||
| ENST00000620123.4:c.1135G>A | ENSP00000481712.1:p.Val379Ile | |
| NM_001290043.1:c.1135G>A | NP_001276972.1:p.Val379Ile | |
| NM_018833.2:c.1135G>A | NP_061313.2:p.Val379Ile | |
| NM_001290043.2:c.1135G>A MANE Select | NP_001276972.1:p.Val379Ile | |
| NM_018833.3:c.1135G>A | NP_061313.2:p.Val379Ile |