COSMIC:
COSM225813 (not active)
COSM304740 (not active)
Revel Score:
ENST00000360608
0.172
ENST00000389970
0.172
ENST00000413640
0.172
ENST00000359033
0.172
ENST00000542856
0.172
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00883901 (AFR)
Genomes Max Group AF
0.0112542 (EAS)
Exomes Max Group AF
0.00693774 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127634C>A , CM000684.2:g.42127634C>A | GRCh38 |
| NC_000022.10:g.42523636C>A , CM000684.1:g.42523636C>A | GRCh37 |
| NC_000022.9:g.40853580C>A | NCBI36 |
| NG_008376.3:g.7358G>T | |
| NG_008376.4:g.8177G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.784G>T | ENSP00000353241.6:n.784G>T | |
| ENST00000645361.2:c.986G>T MANE Select | ENSP00000496150.1:p.Arg329Leu | |
| ENST00000359033.4:c.833G>T | ENSP00000351927.4:p.Arg278Leu | |
| ENST00000360124.9:c.604G>T | ENSP00000353241.5:n.604G>T | |
| ENST00000360608.9:c.986G>T | ENSP00000353820.5:p.Arg329Leu | |
| ENST00000389970.7:c.977G>T | ENSP00000374620.4:p.Gly326Val | |
| ENST00000488442.1:n.1710G>T | ||
| NM_000106.5:c.986G>T | NP_000097.3:p.Arg329Leu | |
| NM_001025161.2:c.833G>T | NP_001020332.2:p.Arg278Leu | |
| XM_011529966.1:c.986G>T | XP_011528268.1:p.Arg329Leu | |
| XM_011529967.1:c.986G>T | XP_011528269.1:p.Arg329Leu | |
| XM_011529968.1:c.986G>T | XP_011528270.1:p.Arg329Leu | |
| XM_011529969.1:c.842G>T | XP_011528271.1:p.Arg281Leu | |
| XM_011529970.1:c.833G>T | XP_011528272.1:p.Arg278Leu | |
| XM_011529971.1:c.842G>T | XP_011528273.1:p.Arg281Leu | |
| XM_011529972.1:c.844G>T | XP_011528274.1:p.Ala282Ser | |
| NM_000106.6:c.986G>T MANE Select | NP_000097.3:p.Arg329Leu | |
| NM_001025161.3:c.833G>T | NP_001020332.2:p.Arg278Leu |