Linked Data
ClinVar Variation Id:
379190
ClinVar RCV Id:
RCV000427335
RCV000579788
RCV000679586
RCV001084748
RCV001123416
RCV001123417
RCV001391325
RCV002318979
dbSNP Id:
rs1057520520
gnomAD v2:
18-48604670-T-C
gnomAD v3:
18-51078300-T-C
gnomAD v4:
18-51078300-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078300T>C , CM000680.2:g.51078300T>C | GRCh38 |
| NC_000018.9:g.48604670T>C , CM000680.1:g.48604670T>C | GRCh37 |
| NC_000018.8:g.46858668T>C | NCBI36 |
| NG_013013.2:g.115261T>C , LRG_318:g.115261T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1492T>C | ENSP00000465878.2:p.Leu498= | |
| ENST00000589076.6:c.1492T>C | ENSP00000466934.2:p.Leu498= | |
| ENST00000589941.2:c.1492T>C | ENSP00000465874.2:p.Leu498= | |
| ENST00000590061.2:c.1492T>C | ENSP00000464772.2:p.Leu498= | |
| ENST00000593223.2:c.*1489T>C | ENSP00000466118.2:n.*1489T>C | |
| ENST00000611848.2:c.*144T>C | ENSP00000478613.2:n.*144T>C | |
| ENST00000684953.1:n.3507T>C | ||
| ENST00000685090.1:n.3422T>C | ||
| ENST00000685232.1:n.1713T>C | ||
| ENST00000688574.1:n.1600T>C | ||
| ENST00000691124.1:n.4453T>C | ||
| ENST00000342988.8:c.1492T>C MANE Select | ENSP00000341551.3:p.Leu498= | |
| ENST00000342988.7:c.1492T>C | ENSP00000341551.3:p.Leu498= | |
| ENST00000398417.6:c.1492T>C | ENSP00000381452.1:p.Leu498= | |
| ENST00000586253.1:n.214T>C | ||
| ENST00000588745.5:c.1204T>C | ENSP00000464901.1:p.Leu402= | |
| ENST00000591126.5:n.3493T>C | ||
| ENST00000592186.5:c.1139T>C | ENSP00000468611.1:n.1139T>C | |
| ENST00000611848.1:c.805T>C | ||
| NM_005359.5:c.1492T>C , LRG_318t1:c.1492T>C | NP_005350.1:p.Leu498= | |
| NM_005359.6:c.1492T>C MANE Select | NP_005350.1:p.Leu498= |