Linked Data
ClinVar Variation Id:
1462667
dbSNP Id:
rs199518433
ExAC:
6:31918500 G / A
gnomAD v2:
6-31918500-G-A
gnomAD v3:
6-31950723-G-A
gnomAD v4:
6-31950723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950723G>A , CM000668.2:g.31950723G>A | GRCh38 |
| NC_000006.11:g.31918500G>A , CM000668.1:g.31918500G>A | GRCh37 |
| NC_000006.10:g.32026479G>A | NCBI36 |
| NG_008191.1:g.9780G>A , LRG_136:g.9780G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2121G>A | ||
| ENST00000483004.2:c.1513G>A | ENSP00000419887.2:p.Val505Ile | |
| ENST00000698628.1:c.1624+320G>A | ENSP00000513848.1:n.1624+320G>A | |
| ENST00000698629.1:n.1906G>A | ||
| ENST00000698630.1:n.2445G>A | ||
| ENST00000698631.1:n.2446G>A | ||
| ENST00000698632.1:n.3240G>A | ||
| ENST00000698633.1:n.3130G>A | ||
| ENST00000698636.1:n.1951G>A | ||
| ENST00000425368.7:c.1729G>A MANE Select | ENSP00000416561.2:p.Val577Ile | |
| ENST00000425368.6:c.1729G>A | ENSP00000416561.2:p.Val577Ile | |
| ENST00000456570.5:c.3235G>A | ENSP00000410815.1:p.Val1079Ile | |
| ENST00000467360.1:n.855G>A | ||
| ENST00000477310.1:c.2782G>A | ENSP00000418996.1:p.Val928Ile | |
| ENST00000483004.1:c.351G>A | ||
| NM_001710.5:c.1729G>A , LRG_136t1:c.1729G>A | NP_001701.2:p.Val577Ile | |
| NM_001710.6:c.1729G>A MANE Select | NP_001701.2:p.Val577Ile |