Linked Data
ClinVar Variation Id:
1988713
ClinVar RCV Id:
RCV002781438
dbSNP Id:
rs764077878
ExAC:
10:50863205 G / A
gnomAD v2:
10-50863205-G-A
gnomAD v3:
10-49655159-G-A
gnomAD v4:
10-49655159-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49655159G>A , CM000672.2:g.49655159G>A | GRCh38 |
| NC_000010.10:g.50863205G>A , CM000672.1:g.50863205G>A | GRCh37 |
| NC_000010.9:g.50533211G>A | NCBI36 |
| NG_011797.1:g.51065G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337653.7:c.1699G>A MANE Select | ENSP00000337103.2:p.Val567Met | |
| ENST00000638282.1:c.*536G>A | ENSP00000492646.1:n.*536G>A | |
| ENST00000638683.1:n.336G>A | ||
| ENST00000640822.1:c.562G>A | ENSP00000491328.1:p.Val188Met | |
| ENST00000337653.6:c.1699G>A | ENSP00000337103.2:p.Val567Met | |
| ENST00000339797.5:c.1345G>A | ENSP00000343486.1:p.Val449Met | |
| ENST00000351556.7:c.1345G>A | ENSP00000345878.3:p.Val449Met | |
| ENST00000395559.6:c.1345G>A | ENSP00000378926.2:p.Val449Met | |
| ENST00000395562.2:c.1453G>A | ENSP00000378929.2:p.Val485Met | |
| ENST00000466590.6:c.*1430G>A | ENSP00000473443.1:n.*1430G>A | |
| NM_001142929.1:c.1345G>A | NP_001136401.1:p.Val449Met | |
| NM_001142933.1:c.1453G>A | NP_001136405.1:p.Val485Met | |
| NM_001142934.1:c.1345G>A | NP_001136406.1:p.Val449Met | |
| NM_020549.4:c.1699G>A | NP_065574.3:p.Val567Met | |
| NM_020984.3:c.1345G>A | NP_066264.3:p.Val449Met | |
| NM_020985.3:c.1345G>A | NP_066265.3:p.Val449Met | |
| NM_020986.3:c.1345G>A | NP_066266.3:p.Val449Met | |
| NM_001142929.2:c.1345G>A | NP_001136401.2:p.Val449Met | |
| NM_001142933.2:c.1453G>A | NP_001136405.2:p.Val485Met | |
| NM_001142934.2:c.1345G>A | NP_001136406.2:p.Val449Met | |
| NM_020549.5:c.1699G>A MANE Select | NP_065574.4:p.Val567Met | |
| NM_020984.4:c.1345G>A | NP_066264.4:p.Val449Met | |
| NM_020985.4:c.1345G>A | NP_066265.4:p.Val449Met | |
| NM_020986.4:c.1345G>A | NP_066266.4:p.Val449Met |