Linked Data
dbSNP Id:
rs770743959
ExAC:
11:57381918 C / T
gnomAD v2:
11-57381918-C-T
gnomAD v4:
11-57614445-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57614445C>T , CM000673.2:g.57614445C>T | GRCh38 |
| NC_000011.9:g.57381918C>T , CM000673.1:g.57381918C>T | GRCh37 |
| NC_000011.8:g.57138494C>T | NCBI36 |
| NG_009625.1:g.21892C>T , LRG_105:g.21892C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.1367C>T MANE Select | ENSP00000278407.4:p.Ala456Val | |
| ENST00000528996.2:c.*264C>T | ENSP00000431226.2:n.*264C>T | |
| ENST00000531605.2:c.*1143C>T | ENSP00000503752.1:n.*1143C>T | |
| ENST00000619430.2:c.1163C>T | ENSP00000478572.2:p.Ala388Val | |
| ENST00000676670.1:c.1367C>T | ENSP00000504807.1:p.Ala456Val | |
| ENST00000676741.1:n.2449C>T | ||
| ENST00000677624.1:c.*787C>T | ENSP00000503979.1:n.*787C>T | |
| ENST00000677625.1:c.1313C>T | ENSP00000502857.1:p.Ala438Val | |
| ENST00000677856.1:n.1620C>T | ||
| ENST00000677915.1:c.*264C>T | ENSP00000503118.1:n.*264C>T | |
| ENST00000678533.1:c.*921C>T | ENSP00000503873.1:n.*921C>T | |
| ENST00000678592.1:c.*307C>T | ENSP00000504424.1:n.*307C>T | |
| ENST00000278407.8:c.1367C>T | ENSP00000278407.4:p.Ala456Val | |
| ENST00000340687.10:c.1256C>T | ENSP00000341861.6:p.Ala419Val | |
| ENST00000378323.8:c.1382C>T | ENSP00000367574.4:p.Ala461Val | |
| ENST00000378324.6:c.1211C>T | ENSP00000367575.2:p.Ala404Val | |
| ENST00000403558.1:c.1496C>T | ENSP00000384420.1:p.Ala499Val | |
| ENST00000528996.1:c.568C>T | ENSP00000431226.1:n.568C>T | |
| ENST00000530113.1:n.824C>T | ||
| ENST00000531133.5:c.868C>T | ENSP00000435431.1:n.868C>T | |
| ENST00000531797.5:c.*392C>T | ENSP00000432554.1:n.*392C>T | |
| ENST00000619430.1:c.498C>T | ENSP00000478572.1:n.498C>T | |
| NM_000062.2:c.1367C>T , LRG_105t1:c.1367C>T | NP_000053.2:p.Ala456Val | |
| NM_001032295.1:c.1367C>T | NP_001027466.1:p.Ala456Val | |
| NM_000062.3:c.1367C>T MANE Select | NP_000053.2:p.Ala456Val | |
| NM_001032295.2:c.1367C>T | NP_001027466.1:p.Ala456Val |