Linked Data
ClinVar Variation Id:
574350
ClinVar RCV Id:
RCV000696268
dbSNP Id:
rs556292818
gnomAD v4:
11-68933892-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933892G>T , CM000673.2:g.68933892G>T | GRCh38 |
| NC_000011.9:g.68701360G>T , CM000673.1:g.68701360G>T | GRCh37 |
| NC_000011.8:g.68457936G>T | NCBI36 |
| NG_007976.1:g.35042G>T , LRG_250:g.35042G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1516G>T MANE Select | ENSP00000255078.4:p.Glu506Ter | |
| ENST00000674955.1:c.*233G>T | ENSP00000502463.1:n.*233G>T | |
| ENST00000675118.1:c.1004G>T | ||
| ENST00000675205.1:n.183+411G>T | ||
| ENST00000675615.1:c.1516G>T | ENSP00000502413.1:p.Glu506Ter | |
| ENST00000675648.1:n.891G>T | ||
| ENST00000675997.1:n.113-572G>T | ||
| ENST00000676173.1:n.2261G>T | ||
| ENST00000676228.1:c.*839G>T | ENSP00000502375.1:n.*839G>T | |
| ENST00000255078.7:c.1516G>T | ENSP00000255078.3:p.Glu506Ter | |
| ENST00000537458.5:n.633G>T | ||
| ENST00000539064.5:n.1275G>T | ||
| ENST00000541229.5:n.211G>T | ||
| ENST00000543739.5:n.633G>T | ||
| NM_002180.2:c.1516G>T , LRG_250t1:c.1516G>T | NP_002171.2:p.Glu506Ter | |
| XM_005273974.2:c.505G>T | XP_005274031.1:p.Glu169Ter | |
| XM_005273975.2:c.388G>T | XP_005274032.1:p.Glu130Ter | |
| XM_011544994.1:c.283G>T | XP_011543296.1:p.Glu95Ter | |
| XR_949903.1:n.1618G>T | ||
| XM_005273975.3:c.388G>T | XP_005274032.1:p.Glu130Ter | |
| XM_017017669.2:c.505G>T | XP_016873158.1:p.Glu169Ter | |
| XM_017017670.2:c.505G>T | XP_016873159.1:p.Glu169Ter | |
| XM_017017671.2:c.1516G>T | XP_016873160.1:p.Glu506Ter | |
| XR_949903.3:n.1614G>T | ||
| NM_002180.3:c.1516G>T MANE Select | NP_002171.2:p.Glu506Ter |