Linked Data
ClinVar Variation Id:
132693
ClinVar RCV Id:
RCV000128172
RCV000273483
RCV000388633
RCV000587945
RCV000770698
RCV001083846
RCV000213005
RCV002310676
RCV001507168
dbSNP Id:
rs1801250
ExAC:
18:48591923 T / C
gnomAD v2:
18-48591923-T-C
gnomAD v3:
18-51065553-T-C
gnomAD v4:
18-51065553-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51065553T>C , CM000680.2:g.51065553T>C | GRCh38 |
| NC_000018.9:g.48591923T>C , CM000680.1:g.48591923T>C | GRCh37 |
| NC_000018.8:g.46845921T>C | NCBI36 |
| NG_013013.2:g.102514T>C , LRG_318:g.102514T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1086T>C | ENSP00000465878.2:p.Phe362= | |
| ENST00000589076.6:c.1086T>C | ENSP00000466934.2:p.Phe362= | |
| ENST00000589941.2:c.1086T>C | ENSP00000465874.2:p.Phe362= | |
| ENST00000590061.2:c.1086T>C | ENSP00000464772.2:p.Phe362= | |
| ENST00000593223.2:c.1086T>C | ENSP00000466118.2:p.Phe362= | |
| ENST00000611848.2:c.1086T>C | ENSP00000478613.2:p.Phe362= | |
| ENST00000684953.1:n.2458T>C | ||
| ENST00000685090.1:n.1537T>C | ||
| ENST00000685232.1:n.1194T>C | ||
| ENST00000688307.1:n.337T>C | ||
| ENST00000688574.1:n.1194T>C | ||
| ENST00000688903.1:n.1300T>C | ||
| ENST00000691124.1:n.2568T>C | ||
| ENST00000342988.8:c.1086T>C MANE Select | ENSP00000341551.3:p.Phe362= | |
| ENST00000342988.7:c.1086T>C | ENSP00000341551.3:p.Phe362= | |
| ENST00000398417.6:c.1086T>C | ENSP00000381452.1:p.Phe362= | |
| ENST00000588745.5:c.798T>C | ENSP00000464901.1:p.Phe266= | |
| ENST00000591126.5:n.3087T>C | ||
| ENST00000592186.5:c.955+5637T>C | ENSP00000468611.1:n.955+5637T>C | |
| ENST00000611848.1:c.286T>C | ||
| NM_005359.5:c.1086T>C , LRG_318t1:c.1086T>C | NP_005350.1:p.Phe362= | |
| NM_005359.6:c.1086T>C MANE Select | NP_005350.1:p.Phe362= |