COSMIC:
COSN17134992 (not active)
COSN17136735 (not active)
COSN17140448 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09506612 (SAS)
Genomes Max Group AF
0.09506612 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.29533972G>T , CM000665.2:g.29533972G>T | GRCh38 |
| NC_000003.11:g.29575463G>T , CM000665.1:g.29575463G>T | GRCh37 |
| NC_000003.10:g.29550467G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383767.7:c.307+45473G>T MANE Select | ENSP00000373277.2:n.307+45473G>T | |
| ENST00000635992.1:c.*814+45473G>T | ENSP00000489994.1:n.*814+45473G>T | |
| ENST00000636680.2:c.685+45473G>T | ENSP00000490271.2:n.685+45473G>T | |
| ENST00000637842.1:c.554+45473G>T | ENSP00000489718.1:n.554+45473G>T | |
| ENST00000273139.13:c.307+45473G>T | ENSP00000273139.9:n.307+45473G>T | |
| ENST00000383766.6:c.304+45473G>T | ENSP00000373276.2:n.304+45473G>T | |
| ENST00000383767.6:c.307+45473G>T | ENSP00000373277.2:n.307+45473G>T | |
| ENST00000434693.6:c.304+45473G>T | ENSP00000395592.1:n.304+45473G>T | |
| ENST00000445033.5:c.307+45473G>T | ENSP00000391934.1:n.307+45473G>T | |
| ENST00000452462.5:c.307+45473G>T | ENSP00000397926.1:n.307+45473G>T | |
| ENST00000456853.1:c.307+45473G>T | ENSP00000400519.1:n.307+45473G>T | |
| ENST00000497205.1:n.118+45473G>T | ||
| NM_001003792.2:c.304+45473G>T | NP_001003792.1:n.304+45473G>T | |
| NM_001003793.2:c.307+45473G>T | NP_001003793.1:n.307+45473G>T | |
| NM_001177711.1:c.307+45473G>T | NP_001171182.1:n.307+45473G>T | |
| NM_001177712.1:c.307+45473G>T | NP_001171183.1:n.307+45473G>T | |
| NM_014483.3:c.307+45473G>T | NP_055298.2:n.307+45473G>T | |
| XM_005265060.1:c.304+45473G>T | XP_005265117.1:n.304+45473G>T | |
| XM_005265061.1:c.307+45473G>T | XP_005265118.1:n.307+45473G>T | |
| XM_005265062.1:c.307+45473G>T | XP_005265119.1:n.307+45473G>T | |
| XM_011533592.1:c.307+45473G>T | XP_011531894.1:n.307+45473G>T | |
| XM_011533593.1:c.307+45473G>T | XP_011531895.1:n.307+45473G>T | |
| XM_011533594.1:c.307+45473G>T | XP_011531896.1:n.307+45473G>T | |
| NM_001330696.1:c.304+45473G>T | NP_001317625.1:n.304+45473G>T | |
| XM_005265061.2:c.307+45473G>T | XP_005265118.1:n.307+45473G>T | |
| XM_017006178.1:c.304+45473G>T | XP_016861667.1:n.304+45473G>T | |
| XM_017006179.1:c.304+45473G>T | XP_016861668.1:n.304+45473G>T | |
| XM_017006180.1:c.307+45473G>T | XP_016861669.1:n.307+45473G>T | |
| XM_017006181.1:c.304+45473G>T | XP_016861670.1:n.304+45473G>T | |
| XM_017006182.1:c.205+45473G>T | XP_016861671.1:n.205+45473G>T | |
| XM_024453454.1:c.307+45473G>T | XP_024309222.1:n.307+45473G>T | |
| NM_001003792.3:c.304+45473G>T | NP_001003792.1:n.304+45473G>T | |
| NM_001003793.3:c.307+45473G>T MANE Select | NP_001003793.1:n.307+45473G>T | |
| NM_001177711.2:c.307+45473G>T | NP_001171182.1:n.307+45473G>T | |
| NM_001177712.2:c.307+45473G>T | NP_001171183.1:n.307+45473G>T | |
| NM_014483.4:c.307+45473G>T | NP_055298.2:n.307+45473G>T |