Linked Data
ClinVar Variation Id:
2946667
ClinVar RCV Id:
RCV003808905
MyVariant Identifiers:
chr11:g.68704247C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936779C>T , CM000673.2:g.68936779C>T | GRCh38 |
| NC_000011.9:g.68704247C>T , CM000673.1:g.68704247C>T | GRCh37 |
| NC_000011.8:g.68460823C>T | NCBI36 |
| NG_007976.1:g.37929C>T , LRG_250:g.37929C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.2299C>T MANE Select | ENSP00000255078.4:p.Leu767= | |
| ENST00000674675.1:c.543C>T | ||
| ENST00000674878.1:c.543C>T | ||
| ENST00000674955.1:c.*1016C>T | ENSP00000502463.1:n.*1016C>T | |
| ENST00000675118.1:c.1787C>T | ||
| ENST00000675389.1:n.574C>T | ||
| ENST00000675615.1:c.2299C>T | ENSP00000502413.1:p.Leu767= | |
| ENST00000675648.1:n.1674C>T | ||
| ENST00000675916.1:c.543C>T | ||
| ENST00000676173.1:n.3044C>T | ||
| ENST00000676182.1:c.730C>T | ||
| ENST00000676228.1:c.*1622C>T | ENSP00000502375.1:n.*1622C>T | |
| ENST00000255078.7:c.2299C>T | ENSP00000255078.3:p.Leu767= | |
| ENST00000539064.5:n.2058C>T | ||
| ENST00000543739.5:n.1292C>T | ||
| NM_002180.2:c.2299C>T , LRG_250t1:c.2299C>T | NP_002171.2:p.Leu767= | |
| XM_005273974.2:c.1288C>T | XP_005274031.1:p.Leu430= | |
| XM_005273975.2:c.1171C>T | XP_005274032.1:p.Leu391= | |
| XM_011544994.1:c.1066C>T | XP_011543296.1:p.Leu356= | |
| XR_949903.1:n.2401C>T | ||
| XM_005273975.3:c.1171C>T | XP_005274032.1:p.Leu391= | |
| XM_017017669.2:c.1288C>T | XP_016873158.1:p.Leu430= | |
| XM_017017670.2:c.1288C>T | XP_016873159.1:p.Leu430= | |
| XR_949903.3:n.2397C>T | ||
| NM_002180.3:c.2299C>T MANE Select | NP_002171.2:p.Leu767= |