COSMIC:
COSM4145638 (not active)
Revel Score:
ENST00000533881
0.062
ENST00000155858
0.062
ENST00000452833
0.062
ENST00000533060
0.062
ENST00000528453
0.062
ENST00000437542
0.062
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69055513 (EAS)
Genomes Max Group AF
0.6518884 (EAS)
Exomes Max Group AF
0.69352428 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2418537T>C , CM000673.2:g.2418537T>C | GRCh38 |
| NC_000011.9:g.2439767T>C , CM000673.1:g.2439767T>C | GRCh37 |
| NC_000011.8:g.2396343T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696290.1:c.704A>G MANE Select | ENSP00000512529.1:p.Asn235Ser | |
| ENST00000155858.10:c.704A>G | ENSP00000155858.5:p.Asn235Ser | |
| ENST00000528453.1:c.704A>G | ENSP00000436809.1:p.Asn235Ser | |
| ENST00000533060.5:c.704A>G | ENSP00000434121.1:p.Asn235Ser | |
| ENST00000533881.5:c.686A>G | ENSP00000434383.1:p.Asn229Ser | |
| NM_014555.3:c.704A>G | NP_055370.1:p.Asn235Ser | |
| XM_011520035.1:c.965A>G | XP_011518337.1:p.Asn322Ser | |
| XM_017017628.1:c.758A>G | XP_016873117.1:p.Asn253Ser | |
| NM_014555.4:c.704A>G MANE Select | NP_055370.1:p.Asn235Ser |