COSMIC:
COSN14777363 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42915619 (SAS)
Genomes Max Group AF
0.42915619 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133970221A>G , CM000671.2:g.133970221A>G | GRCh38 |
| NC_000009.11:g.136835343A>G , CM000671.1:g.136835343A>G | GRCh37 |
| NC_000009.10:g.135825164A>G | NCBI36 |
| NG_029725.1:g.27104T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371850.8:c.204+21854T>C MANE Select | ENSP00000360916.3:n.204+21854T>C | |
| ENST00000371850.7:c.204+21854T>C | ENSP00000360916.3:n.204+21854T>C | |
| ENST00000371851.1:c.204+21854T>C | ENSP00000360917.1:n.204+21854T>C | |
| ENST00000406606.7:c.204+21854T>C | ENSP00000385362.3:n.204+21854T>C | |
| ENST00000486113.1:n.185+21854T>C | ||
| NM_001134398.1:c.204+21854T>C | NP_001127870.1:n.204+21854T>C | |
| NM_003371.3:c.204+21854T>C | NP_003362.2:n.204+21854T>C | |
| XM_005272213.1:c.204+21854T>C | XP_005272270.1:n.204+21854T>C | |
| XM_006717277.1:c.204+21854T>C | XP_006717340.1:n.204+21854T>C | |
| XM_011518983.1:c.204+21854T>C | XP_011517285.1:n.204+21854T>C | |
| XM_011518984.1:c.204+21854T>C | XP_011517286.1:n.204+21854T>C | |
| XM_017015108.1:c.204+21854T>C | XP_016870597.1:n.204+21854T>C | |
| XM_017015109.1:c.204+21854T>C | XP_016870598.1:n.204+21854T>C | |
| XM_017015110.1:c.204+21854T>C | XP_016870599.1:n.204+21854T>C | |
| XM_017015111.1:c.204+21854T>C | XP_016870600.1:n.204+21854T>C | |
| XM_017015112.1:c.204+21854T>C | XP_016870601.1:n.204+21854T>C | |
| XM_017015113.1:c.204+21854T>C | XP_016870602.1:n.204+21854T>C | |
| NM_001134398.2:c.204+21854T>C MANE Select | NP_001127870.1:n.204+21854T>C | |
| NM_003371.4:c.204+21854T>C | NP_003362.2:n.204+21854T>C |