Linked Data
ClinVar Variation Id:
297075
dbSNP Id:
rs3816539
ExAC:
1:26786627 G / A
gnomAD v2:
1-26786627-G-A
gnomAD v3:
1-26460136-G-A
gnomAD v4:
1-26460136-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26460136G>A , CM000663.2:g.26460136G>A | GRCh38 |
| NC_000001.10:g.26786627G>A , CM000663.1:g.26786627G>A | GRCh37 |
| NC_000001.9:g.26659214G>A | NCBI36 |
| NG_029786.1:g.32855G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528557.6:c.757G>A | ENSP00000515248.1:p.Val253Met | |
| ENST00000703198.1:c.657+2231G>A | ENSP00000515227.1:n.657+2231G>A | |
| ENST00000703199.1:c.538G>A | ENSP00000515228.1:p.Val180Met | |
| ENST00000703200.1:c.*515G>A | ENSP00000515229.1:n.*515G>A | |
| ENST00000703201.1:c.*1703G>A | ENSP00000515230.1:n.*1703G>A | |
| ENST00000703202.1:c.613G>A | ENSP00000515231.1:p.Val205Met | |
| ENST00000703203.1:c.*1703G>A | ENSP00000515232.1:n.*1703G>A | |
| ENST00000703262.1:c.757G>A | ENSP00000515247.1:p.Val253Met | |
| ENST00000703263.1:c.*288G>A | ENSP00000515249.1:n.*288G>A | |
| ENST00000703264.1:n.1085G>A | ||
| ENST00000236342.12:c.757G>A MANE Select | ENSP00000236342.7:p.Val253Met | |
| ENST00000236342.11:c.757G>A | ENSP00000236342.7:p.Val253Met | |
| ENST00000360009.6:c.757G>A | ENSP00000353104.2:p.Val253Met | |
| ENST00000416052.1:c.386G>A | ||
| ENST00000430232.5:c.640G>A | ENSP00000397584.1:p.Val214Met | |
| ENST00000431933.5:c.270+2231G>A | ENSP00000399781.1:n.270+2231G>A | |
| ENST00000434391.6:c.*558G>A | ENSP00000403529.2:n.*558G>A | |
| ENST00000525682.6:c.655G>A | ENSP00000434984.1:p.Val219Met | |
| ENST00000526219.5:c.640G>A | ENSP00000434219.1:p.Val214Met | |
| NM_001243564.1:c.655G>A | NP_001230493.1:p.Val219Met | |
| NM_001243565.1:c.640G>A | NP_001230494.1:p.Val214Met | |
| NM_024887.3:c.757G>A | NP_079163.2:p.Val253Met | |
| NM_205861.2:c.757G>A | NP_995583.1:p.Val253Met | |
| XM_006710912.1:c.757G>A | XP_006710975.1:p.Val253Met | |
| XM_006710913.1:c.757G>A | XP_006710976.1:p.Val253Met | |
| XM_006710914.1:c.757G>A | XP_006710977.1:p.Val253Met | |
| XM_006710915.1:c.655G>A | XP_006710978.1:p.Val219Met | |
| XM_006710916.1:c.478G>A | XP_006710979.1:p.Val160Met | |
| XM_006710917.1:c.478G>A | XP_006710980.1:p.Val160Met | |
| XM_006710918.1:c.478G>A | XP_006710981.1:p.Val160Met | |
| XM_006710919.1:c.478G>A | XP_006710982.1:p.Val160Met | |
| XM_011542183.1:c.757G>A | XP_011540485.1:p.Val253Met | |
| XM_011542184.1:c.757G>A | XP_011540486.1:p.Val253Met | |
| XM_011542185.1:c.655G>A | XP_011540487.1:p.Val219Met | |
| XM_011542186.1:c.655G>A | XP_011540488.1:p.Val219Met | |
| NM_001319959.1:c.478G>A | NP_001306888.1:p.Val160Met | |
| NM_205861.3:c.757G>A MANE Select | NP_995583.1:p.Val253Met | |
| NM_001243564.2:c.655G>A | NP_001230493.1:p.Val219Met | |
| NM_001243565.2:c.640G>A | NP_001230494.1:p.Val214Met | |
| NM_001319959.2:c.478G>A | NP_001306888.1:p.Val160Met | |
| NM_024887.4:c.757G>A | NP_079163.2:p.Val253Met |