ClinVar Variation:
COSMIC:
COSM5019118
COSM5019119
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0552493 (NFE)
Genomes Max Group AF
0.05959762 (NFE)
Exomes Max Group AF
0.05489706 (NFE)
Revel Score:
ENST00000360608
0.036
ENST00000389970
0.036
ENST00000359033
0.036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42130761C>T , CM000684.2:g.42130761C>T | GRCh38 |
| NC_000022.10:g.42526763C>T , CM000684.1:g.42526763C>T | GRCh37 |
| NC_000022.9:g.40856707C>T | NCBI36 |
| NG_008376.3:g.4231G>A | |
| NG_008376.4:g.5050G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.31G>A | ENSP00000353241.6:p.Val11Met | |
| ENST00000645361.2:c.31G>A MANE Select | ENSP00000496150.1:p.Val11Met | |
| ENST00000359033.4:c.31G>A | ENSP00000351927.4:p.Val11Met | |
| ENST00000360608.9:c.31G>A | ENSP00000353820.5:p.Val11Met | |
| ENST00000389970.7:c.-36G>A | ENSP00000374620.4:n.-36G>A | |
| ENST00000488442.1:n.53G>A | ||
| NM_000106.5:c.31G>A | NP_000097.3:p.Val11Met | |
| NM_001025161.2:c.31G>A | NP_001020332.2:p.Val11Met | |
| XM_011529966.1:c.31G>A | XP_011528268.1:p.Val11Met | |
| XM_011529967.1:c.31G>A | XP_011528269.1:p.Val11Met | |
| XM_011529968.1:c.31G>A | XP_011528270.1:p.Val11Met | |
| XM_011529969.1:c.37+536G>A | XP_011528271.1:n.37+536G>A | |
| XM_011529970.1:c.31G>A | XP_011528272.1:p.Val11Met | |
| XM_011529971.1:c.37+536G>A | XP_011528273.1:n.37+536G>A | |
| XM_011529972.1:c.31G>A | XP_011528274.1:p.Val11Met | |
| XR_430455.2:n.328+73C>T | ||
| NM_000106.6:c.31G>A MANE Select | NP_000097.3:p.Val11Met | |
| XR_002958749.1:n.275+73C>T | ||
| NM_001025161.3:c.31G>A | NP_001020332.2:p.Val11Met |