Linked Data
ClinVar Variation Id:
138188
dbSNP Id:
rs61748381
ExAC:
X:153296677 G / A
gnomAD v2:
X-153296677-G-A
gnomAD v3:
X-154031226-G-A
gnomAD v4:
X-154031226-G-A
PubMed:
PMID:10944854
PMID:11106359
PMID:11462237
PMID:11738883
PMID:12180070
PMID:15578581
PMID:15737703
PMID:16376510
PMID:16672765
PMID:17084570
PMID:17427193
PMID:18174559
PMID:21160487
PMID:23262346
PMID:23591336
PMID:23891399
ERepo:
CA211932/MONDO:0010726/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031226G>A , CM000685.2:g.154031226G>A | GRCh38 |
| NC_000023.10:g.153296677G>A , CM000685.1:g.153296677G>A | GRCh37 |
| NC_000023.9:g.152949871G>A | NCBI36 |
| NG_007107.2:g.110902C>T | |
| NG_007107.3:g.110878C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.602C>T MANE Plus Clinical | ENSP00000301948.6:p.Ala201Val | |
| ENST00000453960.7:c.638C>T MANE Select | ENSP00000395535.2:p.Ala213Val | |
| ENST00000637917.1:c.65+170C>T | ||
| ENST00000303391.10:c.602C>T | ENSP00000301948.6:p.Ala201Val | |
| ENST00000407218.5:c.529C>T | ENSP00000384865.2:p.Arg177Trp | |
| ENST00000453960.6:c.638C>T | ENSP00000395535.2:p.Ala213Val | |
| ENST00000619732.4:c.602C>T | ENSP00000480973.1:p.Ala201Val | |
| ENST00000622433.4:c.590C>T | ENSP00000484470.1:p.Ala197Val | |
| ENST00000628176.2:c.493C>T | ENSP00000486978.1:p.Arg165Trp | |
| NM_001110792.1:c.638C>T | NP_001104262.1:p.Ala213Val | |
| NM_001316337.1:c.323C>T | NP_001303266.1:p.Ala108Val | |
| NM_004992.3:c.602C>T | NP_004983.1:p.Ala201Val | |
| XM_005274681.3:c.602C>T | XP_005274738.1:p.Ala201Val | |
| XM_005274682.3:c.323C>T | XP_005274739.1:p.Ala108Val | |
| XM_005274683.3:c.323C>T | XP_005274740.1:p.Ala108Val | |
| XM_006724819.2:c.-68C>T | XP_006724882.1:n.-68C>T | |
| XM_011531166.1:c.323C>T | XP_011529468.1:p.Ala108Val | |
| XM_006724819.3:c.-68C>T | XP_006724882.1:n.-68C>T | |
| XM_011531166.2:c.323C>T | XP_011529468.1:p.Ala108Val | |
| XM_024452383.1:c.323C>T | XP_024308151.1:p.Ala108Val | |
| XM_024452384.1:c.323C>T | XP_024308152.1:p.Ala108Val | |
| NM_001110792.2:c.638C>T MANE Select | NP_001104262.1:p.Ala213Val | |
| NM_001316337.2:c.323C>T | NP_001303266.1:p.Ala108Val | |
| NM_001369391.2:c.323C>T | NP_001356320.1:p.Ala108Val | |
| NM_001369392.2:c.323C>T | NP_001356321.1:p.Ala108Val | |
| NM_001369393.2:c.323C>T | NP_001356322.1:p.Ala108Val | |
| NM_001369394.1:c.323C>T | NP_001356323.1:p.Ala108Val | |
| NM_001369394.2:c.323C>T | NP_001356323.1:p.Ala108Val | |
| NM_001386137.1:c.-68C>T | NP_001373066.1:n.-68C>T | |
| NM_001386138.1:c.-68C>T | NP_001373067.1:n.-68C>T | |
| NM_001386139.1:c.-68C>T | NP_001373068.1:n.-68C>T | |
| NM_004992.4:c.602C>T MANE Plus Clinical | NP_004983.1:p.Ala201Val |