Linked Data
ClinVar Variation Id:
143560
dbSNP Id:
rs61748389
ERepo:
CA270390/MONDO:0010726/016
PubMed:
PMID:10854091
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031430C>A , CM000685.2:g.154031430C>A | GRCh38 |
| NC_000023.10:g.153296881C>A , CM000685.1:g.153296881C>A | GRCh37 |
| NC_000023.9:g.152950075C>A | NCBI36 |
| NG_007107.2:g.110698G>T | |
| NG_007107.3:g.110674G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.398G>T MANE Plus Clinical | ENSP00000301948.6:p.Arg133Leu | |
| ENST00000453960.7:c.434G>T MANE Select | ENSP00000395535.2:p.Arg145Leu | |
| ENST00000637917.1:c.31G>T | ||
| ENST00000303391.10:c.398G>T | ENSP00000301948.6:p.Arg133Leu | |
| ENST00000369957.5:c.*452G>T | ENSP00000358973.4:n.*452G>T | |
| ENST00000407218.5:c.434G>T | ENSP00000384865.2:p.Arg145Leu | |
| ENST00000453960.6:c.434G>T | ENSP00000395535.2:p.Arg145Leu | |
| ENST00000486506.5:n.2746G>T | ||
| ENST00000611468.1:c.386G>T | ENSP00000479736.1:p.Arg129Leu | |
| ENST00000619732.4:c.398G>T | ENSP00000480973.1:p.Arg133Leu | |
| ENST00000622433.4:c.386G>T | ENSP00000484470.1:p.Arg129Leu | |
| ENST00000628176.2:c.398G>T | ENSP00000486978.1:p.Arg133Leu | |
| NM_001110792.1:c.434G>T | NP_001104262.1:p.Arg145Leu | |
| NM_001316337.1:c.119G>T | NP_001303266.1:p.Arg40Leu | |
| NM_004992.3:c.398G>T | NP_004983.1:p.Arg133Leu | |
| XM_005274681.3:c.398G>T | XP_005274738.1:p.Arg133Leu | |
| XM_005274682.3:c.119G>T | XP_005274739.1:p.Arg40Leu | |
| XM_005274683.3:c.119G>T | XP_005274740.1:p.Arg40Leu | |
| XM_006724819.2:c.-163G>T | XP_006724882.1:n.-163G>T | |
| XM_011531166.1:c.119G>T | XP_011529468.1:p.Arg40Leu | |
| XM_006724819.3:c.-163G>T | XP_006724882.1:n.-163G>T | |
| XM_011531166.2:c.119G>T | XP_011529468.1:p.Arg40Leu | |
| XM_024452383.1:c.119G>T | XP_024308151.1:p.Arg40Leu | |
| XM_024452384.1:c.119G>T | XP_024308152.1:p.Arg40Leu | |
| NM_001110792.2:c.434G>T MANE Select | NP_001104262.1:p.Arg145Leu | |
| NM_001316337.2:c.119G>T | NP_001303266.1:p.Arg40Leu | |
| NM_001369391.2:c.119G>T | NP_001356320.1:p.Arg40Leu | |
| NM_001369392.2:c.119G>T | NP_001356321.1:p.Arg40Leu | |
| NM_001369393.2:c.119G>T | NP_001356322.1:p.Arg40Leu | |
| NM_001369394.1:c.119G>T | NP_001356323.1:p.Arg40Leu | |
| NM_001369394.2:c.119G>T | NP_001356323.1:p.Arg40Leu | |
| NM_001386137.1:c.-163G>T | NP_001373066.1:n.-163G>T | |
| NM_001386138.1:c.-163G>T | NP_001373067.1:n.-163G>T | |
| NM_001386139.1:c.-163G>T | NP_001373068.1:n.-163G>T | |
| NM_004992.4:c.398G>T MANE Plus Clinical | NP_004983.1:p.Arg133Leu |