COSMIC:
COSM3750012 (not active)
COSM4946086 (not active)
Revel Score:
ENST00000330883
0.600
ENST00000392968
0.600
ENST00000262186 (MANE Select)
0.600
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02332658 (NFE)
Genomes Max Group AF
0.02486205 (NFE)
Exomes Max Group AF
0.02317478 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947340C>A , CM000669.2:g.150947340C>A | GRCh38 |
| NC_000007.13:g.150644428C>A , CM000669.1:g.150644428C>A | GRCh37 |
| NC_000007.12:g.150275361C>A | NCBI36 |
| NG_008916.1:g.35587G>T , LRG_288:g.35587G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3973G>T | ||
| ENST00000262186.10:c.3140G>T MANE Select | ENSP00000262186.5:p.Arg1047Leu | |
| ENST00000330883.9:c.2120G>T | ENSP00000328531.4:p.Arg707Leu | |
| ENST00000262186.9:c.3140G>T | ENSP00000262186.5:p.Arg1047Leu | |
| ENST00000330883.8:c.2120G>T | ENSP00000328531.4:p.Arg707Leu | |
| NM_000238.3:c.3140G>T , LRG_288t1:c.3140G>T | NP_000229.1:p.Arg1047Leu | |
| NM_172057.2:c.2120G>T , LRG_288t3:c.2120G>T | NP_742054.1:p.Arg707Leu | |
| XM_011516185.1:c.2840G>T | XP_011514487.1:p.Arg947Leu | |
| XM_011516185.2:c.2840G>T | XP_011514487.1:p.Arg947Leu | |
| XM_017012195.1:c.2990G>T | XP_016867684.1:p.Arg997Leu | |
| XM_017012196.1:c.2963G>T | XP_016867685.1:p.Arg988Leu | |
| NM_000238.4:c.3140G>T MANE Select | NP_000229.1:p.Arg1047Leu | |
| NM_172057.3:c.2120G>T | NP_742054.1:p.Arg707Leu |