Linked Data
ClinVar Variation Id:
2868738
ClinVar RCV Id:
RCV003698130
dbSNP Id:
rs766124386
ExAC:
11:57373656 C / T
gnomAD v2:
11-57373656-C-T
gnomAD v3:
11-57606183-C-T
gnomAD v4:
11-57606183-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57606183C>T , CM000673.2:g.57606183C>T | GRCh38 |
| NC_000011.9:g.57373656C>T , CM000673.1:g.57373656C>T | GRCh37 |
| NC_000011.8:g.57130232C>T | NCBI36 |
| NG_009625.1:g.13630C>T , LRG_105:g.13630C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.859C>T MANE Select | ENSP00000278407.4:p.Leu287Phe | |
| ENST00000528996.2:c.59-5543C>T | ENSP00000431226.2:n.59-5543C>T | |
| ENST00000531605.2:c.*635C>T | ENSP00000503752.1:n.*635C>T | |
| ENST00000619430.2:c.686-225C>T | ENSP00000478572.2:n.686-225C>T | |
| ENST00000676670.1:c.859C>T | ENSP00000504807.1:p.Leu287Phe | |
| ENST00000676741.1:n.1941C>T | ||
| ENST00000677624.1:c.*279C>T | ENSP00000503979.1:n.*279C>T | |
| ENST00000677625.1:c.859C>T | ENSP00000502857.1:p.Leu287Phe | |
| ENST00000677856.1:n.918C>T | ||
| ENST00000677915.1:c.685+4014C>T | ENSP00000503118.1:n.685+4014C>T | |
| ENST00000678533.1:c.*413C>T | ENSP00000503873.1:n.*413C>T | |
| ENST00000678592.1:c.859C>T | ENSP00000504424.1:p.Leu287Phe | |
| ENST00000278407.8:c.859C>T | ENSP00000278407.4:p.Leu287Phe | |
| ENST00000340687.10:c.859C>T | ENSP00000341861.6:p.Leu287Phe | |
| ENST00000378323.8:c.874C>T | ENSP00000367574.4:p.Leu292Phe | |
| ENST00000378324.6:c.703C>T | ENSP00000367575.2:p.Leu235Phe | |
| ENST00000403558.1:c.961C>T | ENSP00000384420.1:p.Leu321Phe | |
| ENST00000531133.5:c.360C>T | ENSP00000435431.1:n.360C>T | |
| ENST00000531797.5:c.*54+4014C>T | ENSP00000432554.1:n.*54+4014C>T | |
| ENST00000619430.1:c.349-5722C>T | ENSP00000478572.1:n.349-5722C>T | |
| NM_000062.2:c.859C>T , LRG_105t1:c.859C>T | NP_000053.2:p.Leu287Phe | |
| NM_001032295.1:c.859C>T | NP_001027466.1:p.Leu287Phe | |
| NM_000062.3:c.859C>T MANE Select | NP_000053.2:p.Leu287Phe | |
| NM_001032295.2:c.859C>T | NP_001027466.1:p.Leu287Phe |