gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50085098 (NFE)
Genomes Max Group AF
0.4869033 (NFE)
Exomes Max Group AF
0.50146885 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56421497T>C , CM000674.2:g.56421497T>C | GRCh38 |
| NC_000012.11:g.56815281T>C , CM000674.1:g.56815281T>C | GRCh37 |
| NC_000012.10:g.55101548T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553532.6:c.2726-4A>G MANE Select | ENSP00000450607.1:n.2726-4A>G | |
| ENST00000229201.4:c.2723-4A>G | ENSP00000229201.4:n.2723-4A>G | |
| ENST00000553532.5:c.2726-4A>G | ENSP00000450607.1:n.2726-4A>G | |
| ENST00000557589.1:n.1074A>G | ||
| NM_003920.3:c.2726-4A>G | NP_003911.2:n.2726-4A>G | |
| XM_011538939.1:c.2723-4A>G | XP_011537241.1:n.2723-4A>G | |
| NM_001330295.1:c.2723-4A>G | NP_001317224.1:n.2723-4A>G | |
| NM_003920.4:c.2726-4A>G | NP_003911.2:n.2726-4A>G | |
| NR_138471.1:n.2902-4A>G | ||
| NM_003920.5:c.2726-4A>G MANE Select | NP_003911.2:n.2726-4A>G | |
| NM_001330295.2:c.2723-4A>G | NP_001317224.1:n.2723-4A>G | |
| NR_138471.2:n.2863-4A>G |