gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58098608 (SAS)
Genomes Max Group AF
0.58098608 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148203924C>G , CM000669.2:g.148203924C>G | GRCh38 |
| NC_000007.13:g.147901016C>G , CM000669.1:g.147901016C>G | GRCh37 |
| NC_000007.12:g.147531949C>G | NCBI36 |
| NG_007092.2:g.2092564C>G | |
| NG_007092.3:g.2092924C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.3011-13364C>G MANE Select | ENSP00000354778.3:n.3011-13364C>G | |
| ENST00000636870.1:n.2873-13364C>G | ||
| ENST00000637020.1:n.829-13364C>G | ||
| ENST00000361727.7:c.3011-13364C>G | ENSP00000354778.3:n.3011-13364C>G | |
| ENST00000627772.2:n.1184-13364C>G | ||
| ENST00000628930.2:c.188-13364C>G | ENSP00000487516.1:n.188-13364C>G | |
| NM_014141.5:c.3011-13364C>G | NP_054860.1:n.3011-13364C>G | |
| XM_006715919.1:c.1499-13364C>G | XP_006715982.1:n.1499-13364C>G | |
| NM_014141.6:c.3011-13364C>G MANE Select | NP_054860.1:n.3011-13364C>G |