Linked Data
ClinVar Variation Id:
143519
ClinVar RCV Id:
RCV000133050
dbSNP Id:
rs61754421
PubMed:
PMID:16473305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154032556C>A , CM000685.2:g.154032556C>A | GRCh38 |
| NC_000023.10:g.153298007C>A , CM000685.1:g.153298007C>A | GRCh37 |
| NC_000023.9:g.152951201C>A | NCBI36 |
| NG_007107.2:g.109572G>T | |
| NG_007107.3:g.109548G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700484.1:n.136G>T | ||
| ENST00000303391.11:c.28G>T MANE Plus Clinical | ENSP00000301948.6:p.Glu10Ter | |
| ENST00000453960.7:c.64G>T MANE Select | ENSP00000395535.2:p.Glu22Ter | |
| ENST00000611468.2:n.276G>T | ||
| ENST00000630151.2:c.28G>T | ENSP00000486089.1:p.Glu10Ter | |
| ENST00000637533.1:n.59G>T | ||
| ENST00000675526.1:c.*421G>T | ENSP00000501710.1:n.*421G>T | |
| ENST00000676382.1:n.221G>T | ||
| ENST00000303391.10:c.28G>T | ENSP00000301948.6:p.Glu10Ter | |
| ENST00000369957.5:c.*82G>T | ENSP00000358973.4:n.*82G>T | |
| ENST00000407218.5:c.64G>T | ENSP00000384865.2:p.Glu22Ter | |
| ENST00000415944.3:c.28G>T | ENSP00000416267.1:p.Glu10Ter | |
| ENST00000453960.6:c.64G>T | ENSP00000395535.2:p.Glu22Ter | |
| ENST00000460227.4:n.1177G>T | ||
| ENST00000463644.5:n.967G>T | ||
| ENST00000481807.3:n.314G>T | ||
| ENST00000486506.5:n.2376G>T | ||
| ENST00000488293.4:n.1077G>T | ||
| ENST00000496908.5:n.159G>T | ||
| ENST00000611468.1:c.16G>T | ENSP00000479736.1:p.Glu6Ter | |
| ENST00000619732.4:c.28G>T | ENSP00000480973.1:p.Glu10Ter | |
| ENST00000622433.4:c.16G>T | ENSP00000484470.1:p.Glu6Ter | |
| ENST00000625300.1:n.253G>T | ||
| ENST00000626422.2:n.738G>T | ||
| ENST00000628176.2:c.28G>T | ENSP00000486978.1:p.Glu10Ter | |
| ENST00000630151.1:c.28G>T | ENSP00000486089.1:p.Glu10Ter | |
| ENST00000631210.1:n.307G>T | ||
| NM_001110792.1:c.64G>T | NP_001104262.1:p.Glu22Ter | |
| NM_001316337.1:c.-252G>T | NP_001303266.1:n.-252G>T | |
| NM_004992.3:c.28G>T | NP_004983.1:p.Glu10Ter | |
| XM_005274681.3:c.28G>T | XP_005274738.1:p.Glu10Ter | |
| XM_005274682.3:c.-252G>T | XP_005274739.1:n.-252G>T | |
| XM_005274683.3:c.-252G>T | XP_005274740.1:n.-252G>T | |
| XM_011531166.1:c.-252G>T | XP_011529468.1:n.-252G>T | |
| XM_006724819.3:c.-533G>T | XP_006724882.1:n.-533G>T | |
| XM_011531166.2:c.-252G>T | XP_011529468.1:n.-252G>T | |
| XM_024452383.1:c.-252G>T | XP_024308151.1:n.-252G>T | |
| XM_024452384.1:c.-252G>T | XP_024308152.1:n.-252G>T | |
| NM_001110792.2:c.64G>T MANE Select | NP_001104262.1:p.Glu22Ter | |
| NM_001316337.2:c.-252G>T | NP_001303266.1:n.-252G>T | |
| NM_001369391.2:c.-252G>T | NP_001356320.1:n.-252G>T | |
| NM_001369392.2:c.-252G>T | NP_001356321.1:n.-252G>T | |
| NM_001369393.2:c.-252G>T | NP_001356322.1:n.-252G>T | |
| NM_001369394.1:c.-252G>T | NP_001356323.1:n.-252G>T | |
| NM_001369394.2:c.-252G>T | NP_001356323.1:n.-252G>T | |
| NM_001386137.1:c.-533G>T | NP_001373066.1:n.-533G>T | |
| NM_001386138.1:c.-533G>T | NP_001373067.1:n.-533G>T | |
| NM_001386139.1:c.-533G>T | NP_001373068.1:n.-533G>T | |
| NM_004992.4:c.28G>T MANE Plus Clinical | NP_004983.1:p.Glu10Ter |