Linked Data
ClinVar Variation Id:
217293
ClinVar RCV Id:
RCV000201234
RCV000430430
RCV000430630
RCV000433104
RCV000419411
RCV000436209
RCV000436795
RCV000438449
RCV000426549
RCV000444285
RCV000445334
RCV000435957
RCV000420376
RCV000424034
RCV000425942
RCV000428214
RCV000441768
RCV000444975
RCV000421752
RCV000421936
RCV000424819
RCV000431980
RCV000437183
RCV000444189
RCV000444369
RCV001775099
RCV002517302
RCV003485561
dbSNP Id:
rs121913275
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179218305G>T , CM000665.2:g.179218305G>T | GRCh38 |
| NC_000003.11:g.178936093G>T , CM000665.1:g.178936093G>T | GRCh37 |
| NC_000003.10:g.180418787G>T | NCBI36 |
| NG_012113.2:g.74783G>T , LRG_310:g.74783G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1635G>T MANE Select | ENSP00000263967.3:p.Glu545Asp | |
| ENST00000462255.2:n.97G>T | ||
| ENST00000643187.1:c.1635G>T | ENSP00000493507.1:p.Glu545Asp | |
| ENST00000674534.1:n.1389G>T | ||
| ENST00000674622.1:c.138G>T | ENSP00000502417.1:p.Glu46Asp | |
| ENST00000675467.1:n.4442G>T | ||
| ENST00000675786.1:c.*202G>T | ENSP00000502323.1:n.*202G>T | |
| ENST00000263967.3:c.1635G>T | ENSP00000263967.3:p.Glu545Asp | |
| NM_006218.2:c.1635G>T , LRG_310t1:c.1635G>T | NP_006209.2:p.Glu545Asp | |
| XM_006713658.2:c.1635G>T | XP_006713721.1:p.Glu545Asp | |
| XM_011512894.1:c.1635G>T | XP_011511196.1:p.Glu545Asp | |
| NM_006218.3:c.1635G>T | NP_006209.2:p.Glu545Asp | |
| XM_006713658.4:c.1635G>T | XP_006713721.1:p.Glu545Asp | |
| XM_011512894.2:c.1635G>T | XP_011511196.1:p.Glu545Asp | |
| NM_006218.4:c.1635G>T MANE Select | NP_006209.2:p.Glu545Asp |