gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24749725 (SAS)
Genomes Max Group AF
0.24749725 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55120071T>C , CM000666.2:g.55120071T>C | GRCh38 |
| NC_000004.11:g.55986238T>C , CM000666.1:g.55986238T>C | GRCh37 |
| NC_000004.10:g.55680995T>C | NCBI36 |
| NG_012004.1:g.10525A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.161+1026A>G MANE Select | ENSP00000263923.4:n.161+1026A>G | |
| ENST00000647068.1:n.174+1026A>G | ||
| ENST00000263923.4:c.161+1026A>G | ENSP00000263923.4:n.161+1026A>G | |
| ENST00000512566.1:n.161+1026A>G | ||
| NM_002253.2:c.161+1026A>G | NP_002244.1:n.161+1026A>G | |
| NM_002253.3:c.161+1026A>G | NP_002244.1:n.161+1026A>G | |
| NM_002253.4:c.161+1026A>G MANE Select | NP_002244.1:n.161+1026A>G |