COSMIC:
COSN24707013 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65396871 (AMR)
Genomes Max Group AF
0.65413108 (AMR)
Exomes Max Group AF
0.61359807 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1413472A>G , CM000664.2:g.1413472A>G | GRCh38 |
| NC_000002.11:g.1417244A>G , CM000664.1:g.1417244A>G | GRCh37 |
| NC_000002.10:g.1396251A>G | NCBI36 |
| NG_011581.1:g.5010A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329066.9:c.-75A>G MANE Select | ENSP00000329869.4:n.-75A>G | |
| ENST00000329066.8:c.-75A>G | ENSP00000329869.4:n.-75A>G | |
| ENST00000345913.8:c.-80A>G | ENSP00000318820.7:n.-80A>G | |
| ENST00000382269.7:c.-75A>G | ENSP00000371704.3:n.-75A>G | |
| ENST00000497517.6:n.180+39070A>G | ||
| ENST00000539820.5:c.-80A>G | ENSP00000444840.1:n.-80A>G | |
| NM_000547.5:c.-80A>G | NP_000538.3:n.-80A>G | |
| NM_001206744.1:c.-75A>G | NP_001193673.1:n.-75A>G | |
| NM_001206745.1:c.-75A>G | NP_001193674.1:n.-75A>G | |
| NM_175719.3:c.-80A>G | NP_783650.1:n.-80A>G | |
| XM_024453087.1:c.-75A>G | XP_024308855.1:n.-75A>G | |
| XM_024453088.1:c.-80A>G | XP_024308856.1:n.-80A>G | |
| XM_024453089.1:c.-2+30A>G | XP_024308857.1:n.-2+30A>G | |
| NM_001206744.2:c.-75A>G MANE Select | NP_001193673.1:n.-75A>G | |
| NM_000547.6:c.-80A>G | NP_000538.3:n.-80A>G | |
| NM_001206745.2:c.-75A>G | NP_001193674.1:n.-75A>G | |
| NM_175719.4:c.-80A>G | NP_783650.1:n.-80A>G |