COSMIC:
COSM3758225 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8694076 (EAS)
Genomes Max Group AF
0.86731993 (EAS)
Exomes Max Group AF
0.8673791 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071007A>G , CM000664.2:g.38071007A>G | GRCh38 |
| NC_000002.11:g.38298150A>G , CM000664.1:g.38298150A>G | GRCh37 |
| NC_000002.10:g.38151654A>G | NCBI36 |
| NG_008386.2:g.10095T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1347T>C | ENSP00000478839.2:p.Asp449= | |
| ENST00000610745.5:c.1347T>C MANE Select | ENSP00000478561.1:p.Asp449= | |
| ENST00000492443.1:n.725T>C | ||
| ENST00000494864.1:c.234T>C | ENSP00000479876.1:p.Asp78= | |
| ENST00000610745.4:c.1347T>C | ENSP00000478561.1:p.Asp449= | |
| ENST00000614273.1:c.1347T>C | ENSP00000483678.1:p.Asp449= | |
| NM_000104.3:c.1347T>C | NP_000095.2:p.Asp449= | |
| NM_000104.4:c.1347T>C MANE Select | NP_000095.2:p.Asp449= |