COSMIC:
COSM4160557 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80450239 (SAS)
Genomes Max Group AF
0.79968321 (SAS)
Exomes Max Group AF
0.80371987 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30489955T>C , CM000668.2:g.30489955T>C | GRCh38 |
| NC_000006.11:g.30457732T>C , CM000668.1:g.30457732T>C | GRCh37 |
| NC_000006.10:g.30565711T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376630.5:c.294T>C MANE Select | ENSP00000365817.4:p.Asn98= | |
| ENST00000376630.4:c.294T>C | ENSP00000365817.4:p.Asn98= | |
| ENST00000484194.1:n.316T>C | ||
| ENST00000493699.1:n.444T>C | ||
| NM_005516.5:c.294T>C | NP_005507.3:p.Asn98= | |
| XM_017010807.1:c.417T>C | XP_016866296.1:p.Asn139= | |
| XM_017010808.1:c.417T>C | XP_016866297.1:p.Asn139= | |
| XM_017010809.2:c.294T>C | XP_016866298.1:p.Asn98= | |
| NM_005516.6:c.294T>C MANE Select | NP_005507.3:p.Asn98= |