gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91477413 (SAS)
Genomes Max Group AF
0.89255174 (SAS)
Exomes Max Group AF
0.91534456 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102847292T>C , CM000674.2:g.102847292T>C | GRCh38 |
| NC_000012.11:g.103241070T>C , CM000674.1:g.103241070T>C | GRCh37 |
| NC_000012.10:g.101765200T>C | NCBI36 |
| NG_008690.1:g.75311A>G | |
| NG_008690.2:g.116119A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.913-341A>G MANE Select | ENSP00000448059.1:n.913-341A>G | |
| ENST00000307000.7:c.898-341A>G | ENSP00000303500.2:n.898-341A>G | |
| ENST00000549247.6:n.672-341A>G | ||
| ENST00000551114.2:n.575-341A>G | ||
| ENST00000553106.5:c.913-341A>G | ENSP00000448059.1:n.913-341A>G | |
| ENST00000635477.1:c.74-2861A>G | ||
| ENST00000635528.1:n.87A>G | ||
| NM_000277.1:c.913-341A>G | NP_000268.1:n.913-341A>G | |
| XM_011538422.1:c.913-2861A>G | XP_011536724.1:n.913-2861A>G | |
| NM_000277.2:c.913-341A>G | NP_000268.1:n.913-341A>G | |
| NM_001354304.1:c.913-341A>G | NP_001341233.1:n.913-341A>G | |
| NM_000277.3:c.913-341A>G MANE Select | NP_000268.1:n.913-341A>G | |
| NM_001354304.2:c.913-341A>G | NP_001341233.1:n.913-341A>G |