Linked Data
ClinVar Variation Id:
472223
ClinVar RCV Id:
RCV000558792
dbSNP Id:
rs966106333
gnomAD v2:
18-59742041-C-T
gnomAD v3:
18-62074808-C-T
gnomAD v4:
18-62074808-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62074808C>T , CM000680.2:g.62074808C>T | GRCh38 |
| NC_000018.9:g.59742041C>T , CM000680.1:g.59742041C>T | GRCh37 |
| NC_000018.8:g.57893021C>T | NCBI36 |
| NG_033144.1:g.117249G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357637.10:c.2590G>A | ENSP00000350263.4:p.Val864Ile | |
| ENST00000638167.1:c.2188G>A | ENSP00000491549.1:p.Val730Ile | |
| ENST00000638183.1:c.2590G>A | ENSP00000491013.1:p.Val864Ile | |
| ENST00000638369.1:c.2407G>A | ENSP00000491811.1:p.Val803Ile | |
| ENST00000638424.1:c.*558G>A | ENSP00000491963.1:n.*558G>A | |
| ENST00000638435.1:c.2359G>A | ENSP00000491850.1:p.Val787Ile | |
| ENST00000638858.1:n.2569G>A | ||
| ENST00000638904.1:c.*270G>A | ENSP00000491318.1:n.*270G>A | |
| ENST00000638936.1:c.2590G>A | ENSP00000492592.1:p.Val864Ile | |
| ENST00000638977.1:c.2530G>A | ENSP00000491010.1:p.Val844Ile | |
| ENST00000639174.1:c.2590G>A | ENSP00000492783.1:p.Val864Ile | |
| ENST00000639342.1:c.2338G>A | ENSP00000491022.1:p.Val780Ile | |
| ENST00000639372.1:c.563-2083G>A | ||
| ENST00000639491.1:n.1220G>A | ||
| ENST00000639600.1:c.2060G>A | ||
| ENST00000639681.1:c.*1847G>A | ENSP00000491929.1:n.*1847G>A | |
| ENST00000639758.1:c.2530G>A | ENSP00000491475.1:p.Val844Ile | |
| ENST00000639902.1:c.2590G>A | ENSP00000490965.1:p.Val864Ile | |
| ENST00000639912.1:c.2530G>A | ENSP00000490970.1:p.Val844Ile | |
| ENST00000640050.1:c.2590G>A | ENSP00000492051.1:p.Val864Ile | |
| ENST00000640145.1:c.2590G>A | ENSP00000491525.1:p.Val864Ile | |
| ENST00000640170.1:c.*1950G>A | ENSP00000491270.1:n.*1950G>A | |
| ENST00000640248.1:n.1093G>A | ||
| ENST00000640252.2:c.2590G>A MANE Select | ENSP00000492233.1:p.Val864Ile | |
| ENST00000640268.1:c.*735G>A | ENSP00000491111.1:n.*735G>A | |
| ENST00000640540.1:c.2590G>A | ENSP00000491620.1:p.Val864Ile | |
| ENST00000640593.1:c.*1548G>A | ENSP00000492017.1:n.*1548G>A | |
| ENST00000640682.1:c.1405G>A | ENSP00000491415.1:p.Val469Ile | |
| ENST00000640704.1:n.374G>A | ||
| ENST00000640876.1:c.2590G>A | ENSP00000491628.1:p.Val864Ile | |
| ENST00000357637.9:c.2590G>A | ENSP00000350263.4:p.Val864Ile | |
| ENST00000400334.7:c.2590G>A | ENSP00000383188.2:p.Val864Ile | |
| ENST00000587942.1:n.1412G>A | ||
| NM_012327.5:c.2590G>A | NP_036459.1:p.Val864Ile | |
| NM_176787.4:c.2590G>A | NP_789744.1:p.Val864Ile | |
| XM_011525889.1:c.2590G>A | XP_011524191.1:p.Val864Ile | |
| XM_011525890.1:c.2590G>A | XP_011524192.1:p.Val864Ile | |
| XM_011525891.1:c.2590G>A | XP_011524193.1:p.Val864Ile | |
| XM_011525892.1:c.2590G>A | XP_011524194.1:p.Val864Ile | |
| XM_011525893.1:c.2590G>A | XP_011524195.1:p.Val864Ile | |
| XM_011525894.1:c.2590G>A | XP_011524196.1:p.Val864Ile | |
| XM_011525895.1:c.2590G>A | XP_011524197.1:p.Val864Ile | |
| XM_011525896.1:c.2590G>A | XP_011524198.1:p.Val864Ile | |
| XM_011525897.1:c.2530G>A | XP_011524199.1:p.Val844Ile | |
| XM_011525898.1:c.2590G>A | XP_011524200.1:p.Val864Ile | |
| XM_017025685.1:c.2188G>A | XP_016881174.1:p.Val730Ile | |
| XM_017025686.1:c.2188G>A | XP_016881175.1:p.Val730Ile | |
| NM_176787.5:c.2590G>A MANE Select | NP_789744.1:p.Val864Ile | |
| NM_012327.6:c.2590G>A | NP_036459.1:p.Val864Ile |