COSMIC:
COSM5510778 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00303313 (AMR)
Genomes Max Group AF
0.00413165 (AMR)
Exomes Max Group AF
0.00245807 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3793453C>T , CM000678.2:g.3793453C>T | GRCh38 |
| NC_000016.9:g.3843454C>T , CM000678.1:g.3843454C>T | GRCh37 |
| NC_000016.8:g.3783455C>T | NCBI36 |
| NG_009873.1:g.91668G>A | |
| NG_009873.2:g.92261G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.1149G>A MANE Select | ENSP00000262367.5:p.Pro383= | |
| ENST00000262367.9:c.1149G>A | ENSP00000262367.5:p.Pro383= | |
| ENST00000382070.7:c.1149G>A | ENSP00000371502.3:p.Pro383= | |
| NM_001079846.1:c.1149G>A | NP_001073315.1:p.Pro383= | |
| NM_004380.2:c.1149G>A | NP_004371.2:p.Pro383= | |
| XM_005255124.3:c.1149G>A | XP_005255181.1:p.Pro383= | |
| XM_005255125.3:c.1149G>A | XP_005255182.1:p.Pro383= | |
| XM_006720848.2:c.1149G>A | XP_006720911.1:p.Pro383= | |
| XM_011522380.1:c.1095G>A | XP_011520682.1:p.Pro365= | |
| XM_011522381.1:c.396G>A | XP_011520683.1:p.Pro132= | |
| XM_011522382.1:c.1149G>A | XP_011520684.1:p.Pro383= | |
| XM_005255124.4:c.1149G>A | XP_005255181.1:p.Pro383= | |
| XM_005255125.4:c.1149G>A | XP_005255182.1:p.Pro383= | |
| XM_006720848.3:c.1149G>A | XP_006720911.1:p.Pro383= | |
| XM_011522381.2:c.396G>A | XP_011520683.1:p.Pro132= | |
| XM_011522382.3:c.1149G>A | XP_011520684.1:p.Pro383= | |
| XM_017022944.1:c.1149G>A | XP_016878433.1:p.Pro383= | |
| NM_004380.3:c.1149G>A MANE Select | NP_004371.2:p.Pro383= |