COSMIC:
COSN19625715 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27505274 (EAS)
Genomes Max Group AF
0.27369162 (EAS)
Exomes Max Group AF
0.2739151 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44259375T>C , CM000683.2:g.44259375T>C | GRCh38 |
| NC_000021.8:g.45679258T>C , CM000683.1:g.45679258T>C | GRCh37 |
| NC_000021.7:g.44503686T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000628202.3:c.344+62A>G MANE Select | ENSP00000486001.1:n.344+62A>G | |
| ENST00000270172.7:c.344+62A>G | ENSP00000270172.3:n.344+62A>G | |
| ENST00000431166.1:c.299+62A>G | ENSP00000400242.1:n.299+62A>G | |
| ENST00000628202.2:c.344+62A>G | ENSP00000486001.1:n.344+62A>G | |
| NM_013369.3:c.344+62A>G | NP_037501.2:n.344+62A>G | |
| NM_175867.2:c.344+62A>G | NP_787063.1:n.344+62A>G | |
| XM_011529536.1:c.344+62A>G | XP_011527838.1:n.344+62A>G | |
| NM_013369.4:c.344+62A>G | NP_037501.2:n.344+62A>G | |
| NM_175867.3:c.344+62A>G MANE Select | NP_787063.1:n.344+62A>G |