COSMIC:
COSM3759062 (not active)
Revel Score:
ENST00000292778 (MANE Select)
0.113
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40767209 (AMR)
Genomes Max Group AF
0.39278396 (EAS)
Exomes Max Group AF
0.44541986 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21628603C>T , CM000684.2:g.21628603C>T | GRCh38 |
| NC_000022.10:g.21982892C>T , CM000684.1:g.21982892C>T | GRCh37 |
| NC_000022.9:g.20312892C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292778.11:c.787G>A MANE Select | ENSP00000292778.6:p.Ala263Thr | |
| ENST00000292778.10:c.787G>A | ENSP00000292778.6:p.Ala263Thr | |
| ENST00000398873.4:c.*159G>A | ENSP00000381847.3:n.*159G>A | |
| ENST00000415762.6:c.*435G>A | ENSP00000402481.2:n.*435G>A | |
| ENST00000464015.5:n.1099G>A | ||
| ENST00000468686.5:n.909G>A | ||
| ENST00000473985.1:n.1005G>A | ||
| ENST00000482998.1:n.907G>A | ||
| NM_001017964.1:c.787G>A | NP_001017964.1:p.Ala263Thr | |
| XM_011529906.1:c.*159G>A | XP_011528208.1:n.*159G>A | |
| XM_011529906.2:c.*159G>A | XP_011528208.1:n.*159G>A | |
| XR_937814.2:n.1115G>A | ||
| NM_001017964.2:c.787G>A MANE Select | NP_001017964.1:p.Ala263Thr | |
| NM_001371350.1:c.*159G>A | NP_001358279.1:n.*159G>A | |
| NR_163922.1:n.854G>A | ||
| NR_163923.1:n.676G>A | ||
| NR_163924.1:n.989G>A | ||
| NR_163925.1:n.811G>A |