ClinVar Variation:
COSMIC:
COSM4144102
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79553211 (SAS)
Genomes Max Group AF
0.78237223 (SAS)
Exomes Max Group AF
0.79522617 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54854229A>G , CM000663.2:g.54854229A>G | GRCh38 |
| NC_000001.10:g.55319902A>G , CM000663.1:g.55319902A>G | GRCh37 |
| NC_000001.9:g.55092490A>G | NCBI36 |
| NG_008839.1:g.38020T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371269.9:c.1026T>C MANE Select | ENSP00000360316.3:p.Ile342= | |
| ENST00000436604.2:c.1026T>C | ENSP00000416585.2:p.Ile342= | |
| ENST00000535035.6:c.1062T>C | ENSP00000440191.3:p.Ile354= | |
| ENST00000647585.1:n.830T>C | ||
| ENST00000647912.1:c.*661T>C | ENSP00000497559.1:n.*661T>C | |
| ENST00000648712.1:n.1144T>C | ||
| ENST00000648728.1:c.*681T>C | ENSP00000497084.1:n.*681T>C | |
| ENST00000649769.1:c.*681T>C | ENSP00000498012.1:n.*681T>C | |
| ENST00000371269.7:c.1026T>C | ENSP00000360316.3:p.Ile342= | |
| ENST00000535035.5:c.759T>C | ENSP00000440191.2:p.Ile253= | |
| NM_014762.3:c.1026T>C | NP_055577.1:p.Ile342= | |
| NM_014762.4:c.1026T>C MANE Select | NP_055577.1:p.Ile342= |