Linked Data
dbSNP Id:
rs1566446496
gnomAD v4:
11-68936584-C-T
COSMIC:
COSM3452554
MyVariant Identifiers:
chr11:g.68704052C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936584C>T , CM000673.2:g.68936584C>T | GRCh38 |
| NC_000011.9:g.68704052C>T , CM000673.1:g.68704052C>T | GRCh37 |
| NC_000011.8:g.68460628C>T | NCBI36 |
| NG_007976.1:g.37734C>T , LRG_250:g.37734C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2104C>T MANE Select | ENSP00000255078.4:p.Leu702= | |
| ENST00000674675.1:c.348C>T | ||
| ENST00000674878.1:c.348C>T | ||
| ENST00000674955.1:c.*821C>T | ENSP00000502463.1:n.*821C>T | |
| ENST00000675118.1:c.1592C>T | ||
| ENST00000675389.1:n.379C>T | ||
| ENST00000675615.1:c.2104C>T | ENSP00000502413.1:p.Leu702= | |
| ENST00000675648.1:n.1479C>T | ||
| ENST00000675916.1:c.348C>T | ||
| ENST00000676173.1:n.2849C>T | ||
| ENST00000676182.1:c.535C>T | ||
| ENST00000676228.1:c.*1427C>T | ENSP00000502375.1:n.*1427C>T | |
| ENST00000255078.7:c.2104C>T | ENSP00000255078.3:p.Leu702= | |
| ENST00000539064.5:n.1863C>T | ||
| ENST00000543739.5:n.1097C>T | ||
| NM_002180.2:c.2104C>T , LRG_250t1:c.2104C>T | NP_002171.2:p.Leu702= | |
| XM_005273974.2:c.1093C>T | XP_005274031.1:p.Leu365= | |
| XM_005273975.2:c.976C>T | XP_005274032.1:p.Leu326= | |
| XM_011544994.1:c.871C>T | XP_011543296.1:p.Leu291= | |
| XR_949903.1:n.2206C>T | ||
| XM_005273975.3:c.976C>T | XP_005274032.1:p.Leu326= | |
| XM_017017669.2:c.1093C>T | XP_016873158.1:p.Leu365= | |
| XM_017017670.2:c.1093C>T | XP_016873159.1:p.Leu365= | |
| XR_949903.3:n.2202C>T | ||
| NM_002180.3:c.2104C>T MANE Select | NP_002171.2:p.Leu702= |