Linked Data
ClinVar Variation Id:
156661
dbSNP Id:
rs587783132
gnomAD v4:
X-154097665-T-A
PubMed:
PMID:19365833
ERepo:
CA274666/MONDO:0010726/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097665T>A , CM000685.2:g.154097665T>A | GRCh38 |
| NC_000023.10:g.153363122T>A , CM000685.1:g.153363122T>A | GRCh37 |
| NC_000023.9:g.153016316T>A | NCBI36 |
| NG_007107.2:g.44457A>T | |
| NG_007107.3:g.44439A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.-160A>T MANE Plus Clinical | ENSP00000301948.6:n.-160A>T | |
| ENST00000453960.7:c.1A>T MANE Select | ENSP00000395535.2:p.Met1Leu | |
| ENST00000303391.10:c.-160A>T | ENSP00000301948.6:n.-160A>T | |
| ENST00000407218.5:c.1A>T | ENSP00000384865.2:p.Met1Leu | |
| ENST00000453960.6:c.1A>T | ENSP00000395535.2:p.Met1Leu | |
| ENST00000619732.4:c.-160A>T | ENSP00000480973.1:n.-160A>T | |
| ENST00000627864.1:n.16A>T | ||
| ENST00000628176.2:c.-160A>T | ENSP00000486978.1:n.-160A>T | |
| ENST00000631210.1:n.305+7116A>T | ||
| NM_001110792.1:c.1A>T | NP_001104262.1:p.Met1Leu | |
| NM_001316337.1:c.-607A>T | NP_001303266.1:n.-607A>T | |
| NM_004992.3:c.-160A>T | NP_004983.1:n.-160A>T | |
| XM_005274682.3:c.-551A>T | XP_005274739.1:n.-551A>T | |
| NM_001110792.2:c.1A>T MANE Select | NP_001104262.1:p.Met1Leu | |
| NM_001316337.2:c.-607A>T | NP_001303266.1:n.-607A>T | |
| NM_001369391.2:c.-902A>T | NP_001356320.1:n.-902A>T | |
| NM_001369392.2:c.-551A>T | NP_001356321.1:n.-551A>T | |
| NM_001369393.2:c.-427A>T | NP_001356322.1:n.-427A>T | |
| NM_001386137.1:c.-832A>T | NP_001373066.1:n.-832A>T | |
| NM_001386138.1:c.-720A>T | NP_001373067.1:n.-720A>T | |
| NM_001386139.1:c.-596A>T | NP_001373068.1:n.-596A>T | |
| NM_004992.4:c.-160A>T MANE Plus Clinical | NP_004983.1:n.-160A>T |