gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64381679 (AMR)
Genomes Max Group AF
0.64381679 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123599427T>C , CM000668.2:g.123599427T>C | GRCh38 |
| NC_000006.11:g.123920572T>C , CM000668.1:g.123920572T>C | GRCh37 |
| NC_000006.10:g.123962271T>C | NCBI36 |
| NG_030438.1:g.42667A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546248.6:c.23-28295A>G | ENSP00000439281.2:n.23-28295A>G | |
| ENST00000334268.9:c.23-28295A>G MANE Select | ENSP00000333984.5:n.23-28295A>G | |
| ENST00000662930.1:c.23-28295A>G | ENSP00000499585.1:n.23-28295A>G | |
| ENST00000334268.8:c.23-28295A>G | ENSP00000333984.5:n.23-28295A>G | |
| ENST00000542443.5:c.23-28295A>G | ENSP00000437684.1:n.23-28295A>G | |
| ENST00000546248.5:c.23-28295A>G | ENSP00000439281.2:n.23-28295A>G | |
| ENST00000628709.2:c.23-28295A>G | ENSP00000486095.1:n.23-28295A>G | |
| NM_001251987.1:c.23-28295A>G | NP_001238916.1:n.23-28295A>G | |
| NM_001256020.1:c.23-28295A>G | NP_001242949.1:n.23-28295A>G | |
| NM_001256021.1:c.23-28295A>G | NP_001242950.1:n.23-28295A>G | |
| NM_001256022.1:c.23-28295A>G | NP_001242951.1:n.23-28295A>G | |
| NM_006073.3:c.23-28295A>G | NP_006064.2:n.23-28295A>G | |
| XM_011535382.1:c.23-28295A>G | XP_011533684.1:n.23-28295A>G | |
| NM_006073.4:c.23-28295A>G MANE Select | NP_006064.2:n.23-28295A>G | |
| NM_001251987.2:c.23-28295A>G | NP_001238916.1:n.23-28295A>G | |
| NM_001256020.2:c.23-28295A>G | NP_001242949.1:n.23-28295A>G | |
| NM_001256021.2:c.23-28295A>G | NP_001242950.1:n.23-28295A>G | |
| NM_001256022.2:c.23-28295A>G | NP_001242951.1:n.23-28295A>G |