Linked Data
ClinVar Variation Id:
182869
ClinVar RCV Id:
RCV000160959
RCV000199953
RCV000260140
RCV000449407
RCV000334040
RCV000515353
RCV001420989
RCV002312690
RCV003483531
dbSNP Id:
rs539739051
ExAC:
18:48584504 C / T
gnomAD v2:
18-48584504-C-T
gnomAD v3:
18-51058134-C-T
gnomAD v4:
18-51058134-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51058134C>T , CM000680.2:g.51058134C>T | GRCh38 |
| NC_000018.9:g.48584504C>T , CM000680.1:g.48584504C>T | GRCh37 |
| NC_000018.8:g.46838502C>T | NCBI36 |
| NG_013013.2:g.95095C>T , LRG_318:g.95095C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.677C>T | ENSP00000465878.2:p.Ala226Val | |
| ENST00000589076.6:c.677C>T | ENSP00000466934.2:p.Ala226Val | |
| ENST00000589941.2:c.677C>T | ENSP00000465874.2:p.Ala226Val | |
| ENST00000590061.2:c.677C>T | ENSP00000464772.2:p.Ala226Val | |
| ENST00000593223.2:c.677C>T | ENSP00000466118.2:p.Ala226Val | |
| ENST00000611848.2:c.677C>T | ENSP00000478613.2:p.Ala226Val | |
| ENST00000684953.1:n.2049C>T | ||
| ENST00000685232.1:n.785C>T | ||
| ENST00000688307.1:n.156-1732C>T | ||
| ENST00000688574.1:n.785C>T | ||
| ENST00000688903.1:n.891C>T | ||
| ENST00000690892.1:n.785C>T | ||
| ENST00000342988.8:c.677C>T MANE Select | ENSP00000341551.3:p.Ala226Val | |
| ENST00000342988.7:c.677C>T | ENSP00000341551.3:p.Ala226Val | |
| ENST00000398417.6:c.677C>T | ENSP00000381452.1:p.Ala226Val | |
| ENST00000588745.5:c.667+3141C>T | ENSP00000464901.1:n.667+3141C>T | |
| ENST00000590722.2:c.*853C>T | ENSP00000465737.1:n.*853C>T | |
| ENST00000591126.5:n.2678C>T | ||
| ENST00000592186.5:c.677C>T | ENSP00000468611.1:p.Ala226Val | |
| ENST00000592911.5:n.455C>T | ||
| NM_005359.5:c.677C>T , LRG_318t1:c.677C>T | NP_005350.1:p.Ala226Val | |
| NM_005359.6:c.677C>T MANE Select | NP_005350.1:p.Ala226Val |