COSMIC:
COSM3752325 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57489738 (EAS)
Genomes Max Group AF
0.53384332 (EAS)
Exomes Max Group AF
0.57842021 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.320772A>G , CM000673.2:g.320772A>G | GRCh38 |
| NC_000011.9:g.320772A>G , CM000673.1:g.320772A>G | GRCh37 |
| NC_000011.8:g.310772A>G | NCBI36 |
| NG_032755.1:g.5143T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399808.5:c.42T>C MANE Select | ENSP00000382707.4:p.Ser14= | |
| ENST00000531688.2:c.42T>C | ENSP00000473645.2:p.Ser14= | |
| ENST00000679382.1:c.42T>C | ENSP00000505839.1:p.Ser14= | |
| ENST00000679433.1:c.-22T>C | ENSP00000506209.1:n.-22T>C | |
| ENST00000679441.1:c.-22T>C | ENSP00000506018.1:n.-22T>C | |
| ENST00000679792.1:c.-22T>C | ENSP00000505901.1:n.-22T>C | |
| ENST00000680023.1:c.-22T>C | ENSP00000506536.1:n.-22T>C | |
| ENST00000680209.1:c.42T>C | ENSP00000505330.1:p.Ser14= | |
| ENST00000680622.1:c.-22T>C | ENSP00000505128.1:n.-22T>C | |
| ENST00000680720.1:c.-22T>C | ENSP00000505213.1:n.-22T>C | |
| ENST00000680932.1:n.70T>C | ||
| ENST00000681184.1:c.-22T>C | ENSP00000505002.1:n.-22T>C | |
| ENST00000681198.1:c.42T>C | ENSP00000506488.1:p.Ser14= | |
| ENST00000681304.1:c.42T>C | ENSP00000506507.1:p.Ser14= | |
| ENST00000681748.1:c.-22T>C | ENSP00000505936.1:n.-22T>C | |
| ENST00000681840.1:c.42T>C | ENSP00000505867.1:p.Ser14= | |
| ENST00000399808.4:c.42T>C | ENSP00000382707.4:p.Ser14= | |
| ENST00000526811.4:c.-22T>C | ENSP00000432108.1:n.-22T>C | |
| ENST00000602735.2:c.-22T>C | ENSP00000473544.1:n.-22T>C | |
| NM_021034.2:c.42T>C | NP_066362.2:p.Ser14= | |
| NR_049759.1:n.143T>C | ||
| NM_021034.3:c.42T>C MANE Select | NP_066362.2:p.Ser14= | |
| NR_049759.2:n.89T>C |