COSMIC:
COSM6352465 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72585782 (NFE)
Genomes Max Group AF
0.72260313 (NFE)
Exomes Max Group AF
0.72576594 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.130406145C>T , CM000665.2:g.130406145C>T | GRCh38 |
| NC_000003.11:g.130124989C>T , CM000665.1:g.130124989C>T | GRCh37 |
| NC_000003.10:g.131607679C>T | NCBI36 |
| NG_021424.1:g.65631C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373157.9:c.4395C>T MANE Select | ENSP00000362250.5:p.Asp1465= | |
| ENST00000512836.6:c.4395C>T | ENSP00000422898.2:p.Asp1465= | |
| ENST00000265379.10:c.4395C>T | ENSP00000265379.7:p.Asp1465= | |
| ENST00000312481.11:c.4395C>T | ENSP00000309762.7:p.Asp1465= | |
| NM_001278298.1:c.4395C>T | NP_001265227.1:p.Asp1465= | |
| NM_153264.6:c.4395C>T | NP_694996.5:p.Asp1465= | |
| NR_022012.2:n.4889C>T | ||
| XM_011512621.1:c.4395C>T | XP_011510923.1:p.Asp1465= | |
| XM_011512622.1:c.4395C>T | XP_011510924.1:p.Asp1465= | |
| XM_011512623.1:c.4395C>T | XP_011510925.1:p.Asp1465= | |
| XM_011512621.2:c.4395C>T | XP_011510923.1:p.Asp1465= | |
| XM_011512622.2:c.4395C>T | XP_011510924.1:p.Asp1465= | |
| XM_011512623.2:c.4395C>T | XP_011510925.1:p.Asp1465= | |
| NM_001278298.2:c.4395C>T MANE Select | NP_001265227.1:p.Asp1465= | |
| NM_153264.7:c.4395C>T | NP_694996.5:p.Asp1465= | |
| NR_022012.3:n.4733C>T |