COSMIC:
COSM3762143 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14219474 (EAS)
Genomes Max Group AF
0.15949558 (EAS)
Exomes Max Group AF
0.13897407 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.55774230G>A , CM000668.2:g.55774230G>A | GRCh38 |
| NC_000006.11:g.55639028G>A , CM000668.1:g.55639028G>A | GRCh37 |
| NC_000006.10:g.55746987G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370830.4:c.846C>T MANE Select | ENSP00000359866.3:p.Asn282= | |
| ENST00000370830.3:c.846C>T | ENSP00000359866.3:p.Asn282= | |
| NM_021073.2:c.846C>T | NP_066551.1:p.Asn282= | |
| XM_005249304.2:c.846C>T | XP_005249361.1:p.Asn282= | |
| XM_011514816.1:c.846C>T | XP_011513118.1:p.Asn282= | |
| XM_011514817.1:c.846C>T | XP_011513119.1:p.Asn282= | |
| NM_001329754.1:c.846C>T | NP_001316683.1:p.Asn282= | |
| NM_001329756.1:c.846C>T | NP_001316685.1:p.Asn282= | |
| NM_021073.3:c.846C>T | NP_066551.1:p.Asn282= | |
| XM_011514817.3:c.846C>T | XP_011513119.1:p.Asn282= | |
| NM_021073.4:c.846C>T MANE Select | NP_066551.1:p.Asn282= | |
| NM_001329754.2:c.846C>T | NP_001316683.1:p.Asn282= | |
| NM_001329756.2:c.846C>T | NP_001316685.1:p.Asn282= |