Linked Data
ClinVar Variation Id:
240149
ClinVar RCV Id:
RCV000227775
RCV000441778
RCV000571677
RCV001126992
RCV001126991
RCV001450080
RCV002311351
dbSNP Id:
rs757211048
ExAC:
18:48575148 T / C
gnomAD v2:
18-48575148-T-C
gnomAD v4:
18-51048778-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51048778T>C , CM000680.2:g.51048778T>C | GRCh38 |
| NC_000018.9:g.48575148T>C , CM000680.1:g.48575148T>C | GRCh37 |
| NC_000018.8:g.46829146T>C | NCBI36 |
| NG_013013.2:g.85739T>C , LRG_318:g.85739T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.342T>C | ENSP00000465878.2:p.Tyr114= | |
| ENST00000589076.6:c.342T>C | ENSP00000466934.2:p.Tyr114= | |
| ENST00000589941.2:c.342T>C | ENSP00000465874.2:p.Tyr114= | |
| ENST00000590061.2:c.342T>C | ENSP00000464772.2:p.Tyr114= | |
| ENST00000593223.2:c.342T>C | ENSP00000466118.2:p.Tyr114= | |
| ENST00000611848.2:c.342T>C | ENSP00000478613.2:p.Tyr114= | |
| ENST00000342988.8:c.342T>C MANE Select | ENSP00000341551.3:p.Tyr114= | |
| ENST00000342988.7:c.342T>C | ENSP00000341551.3:p.Tyr114= | |
| ENST00000398417.6:c.342T>C | ENSP00000381452.1:p.Tyr114= | |
| ENST00000588745.5:c.342T>C | ENSP00000464901.1:p.Tyr114= | |
| ENST00000588860.5:c.342T>C | ENSP00000465878.1:p.Tyr114= | |
| ENST00000589706.1:n.210T>C | ||
| ENST00000589941.1:c.342T>C | ENSP00000465874.1:p.Tyr114= | |
| ENST00000590061.1:c.342T>C | ENSP00000464772.1:p.Tyr114= | |
| ENST00000590722.2:c.*365T>C | ENSP00000465737.1:n.*365T>C | |
| ENST00000591914.5:c.342T>C | ENSP00000466941.1:p.Tyr114= | |
| ENST00000592186.5:c.342T>C | ENSP00000468611.1:p.Tyr114= | |
| ENST00000592911.5:n.120T>C | ||
| NM_005359.5:c.342T>C , LRG_318t1:c.342T>C | NP_005350.1:p.Tyr114= | |
| NM_005359.6:c.342T>C MANE Select | NP_005350.1:p.Tyr114= |