COSMIC:
COSM4145412 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66609189 (NFE)
Genomes Max Group AF
0.65709915 (NFE)
Exomes Max Group AF
0.66636685 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121586253C>T , CM000673.2:g.121586253C>T | GRCh38 |
| NC_000011.9:g.121456962C>T , CM000673.1:g.121456962C>T | GRCh37 |
| NC_000011.8:g.120962172C>T | NCBI36 |
| NG_023313.1:g.139002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.3738C>T MANE Select | ENSP00000260197.6:p.Asn1246= | |
| ENST00000260197.11:c.3738C>T | ENSP00000260197.6:p.Asn1246= | |
| ENST00000525532.5:c.570C>T | ENSP00000434634.1:p.Asn190= | |
| ENST00000532694.5:c.276C>T | ENSP00000432131.1:p.Asn92= | |
| ENST00000534286.5:c.468C>T | ENSP00000436447.1:p.Asn156= | |
| NM_003105.5:c.3738C>T | NP_003096.1:p.Asn1246= | |
| XM_011542963.1:c.3624C>T | XP_011541265.1:p.Asn1208= | |
| XM_011542964.1:c.3738C>T | XP_011541266.1:p.Asn1246= | |
| XM_011542965.1:c.2199C>T | XP_011541267.1:p.Asn733= | |
| XM_011542966.1:c.1098C>T | XP_011541268.1:p.Asn366= | |
| XM_011542967.1:c.570C>T | XP_011541269.1:p.Asn190= | |
| XM_011542963.3:c.3624C>T | XP_011541265.1:p.Asn1208= | |
| XM_011542965.3:c.2199C>T | XP_011541267.1:p.Asn733= | |
| XM_011542967.3:c.570C>T | XP_011541269.1:p.Asn190= | |
| XM_017018169.2:c.3426C>T | XP_016873658.1:p.Asn1142= | |
| XM_017018170.2:c.3213C>T | XP_016873659.1:p.Asn1071= | |
| XM_017018171.1:c.3738C>T | XP_016873660.1:p.Asn1246= | |
| XM_017018172.2:c.1098C>T | XP_016873661.1:p.Asn366= | |
| NM_003105.6:c.3738C>T MANE Select | NP_003096.2:p.Asn1246= |