Linked Data
ClinVar Variation Id:
2473641
ClinVar RCV Id:
RCV003197885
dbSNP Id:
rs766010024
ExAC:
15:75188642 G / A
gnomAD v2:
15-75188642-G-A
gnomAD v3:
15-74896301-G-A
gnomAD v4:
15-74896301-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74896301G>A , CM000677.2:g.74896301G>A | GRCh38 |
| NC_000015.9:g.75188642G>A , CM000677.1:g.75188642G>A | GRCh37 |
| NC_000015.8:g.72975695G>A | NCBI36 |
| NG_008921.1:g.11233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.820G>A MANE Select | ENSP00000318318.6:p.Val274Ile | |
| ENST00000323744.10:c.637G>A | ENSP00000318192.6:p.Val213Ile | |
| ENST00000352410.8:c.820G>A | ENSP00000318318.6:p.Val274Ile | |
| ENST00000535694.5:c.670G>A | ENSP00000440447.1:p.Val224Ile | |
| ENST00000562606.5:c.760G>A | ENSP00000457020.1:p.Val254Ile | |
| ENST00000562800.5:c.256-1238G>A | ENSP00000457619.1:n.256-1238G>A | |
| ENST00000563422.5:c.820G>A | ENSP00000457885.1:p.Val274Ile | |
| ENST00000563786.5:c.760G>A | ENSP00000455241.1:p.Val254Ile | |
| ENST00000564003.5:c.487G>A | ENSP00000454312.1:p.Val163Ile | |
| ENST00000566377.5:c.820G>A | ENSP00000455405.1:p.Val274Ile | |
| ENST00000566556.1:n.868G>A | ||
| ENST00000567177.1:c.598G>A | ENSP00000457013.1:p.Val200Ile | |
| ENST00000569931.5:c.760G>A | ENSP00000455161.1:p.Val254Ile | |
| NM_001289155.1:c.820G>A | NP_001276084.1:p.Val274Ile | |
| NM_001289156.1:c.670G>A | NP_001276085.1:p.Val224Ile | |
| NM_001289157.1:c.637G>A | NP_001276086.1:p.Val213Ile | |
| NM_002435.2:c.820G>A | NP_002426.1:p.Val274Ile | |
| XM_011521592.1:c.808G>A | XP_011519894.1:p.Val270Ile | |
| XM_011521593.1:c.760G>A | XP_011519895.1:p.Val254Ile | |
| NM_001330372.1:c.760G>A | NP_001317301.1:p.Val254Ile | |
| XM_017022208.1:c.760G>A | XP_016877697.1:p.Val254Ile | |
| XM_017022209.2:c.670G>A | XP_016877698.1:p.Val224Ile | |
| NM_002435.3:c.820G>A MANE Select | NP_002426.1:p.Val274Ile | |
| NM_001289155.2:c.820G>A | NP_001276084.1:p.Val274Ile | |
| NM_001289156.2:c.670G>A | NP_001276085.1:p.Val224Ile | |
| NM_001289157.2:c.637G>A | NP_001276086.1:p.Val213Ile | |
| NM_001330372.2:c.760G>A | NP_001317301.1:p.Val254Ile |