gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7968362 (EAS)
Genomes Max Group AF
0.7968362 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30200635A>C , CM000679.2:g.30200635A>C | GRCh38 |
| NC_000017.10:g.28527653A>C , CM000679.1:g.28527653A>C | GRCh37 |
| NC_000017.9:g.25551779A>C | NCBI36 |
| NG_011747.2:g.40302T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.1819-2105T>G MANE Select | ENSP00000498537.1:n.1819-2105T>G | |
| ENST00000261707.7:c.1819-2105T>G | ENSP00000261707.3:n.1819-2105T>G | |
| ENST00000394821.2:c.1819-2105T>G | ENSP00000378298.2:n.1819-2105T>G | |
| ENST00000401766.6:c.1819-2105T>G | ENSP00000385822.2:n.1819-2105T>G | |
| ENST00000578609.1:n.512-2105T>G | ||
| ENST00000579221.5:c.460-2105T>G | ||
| NM_001045.5:c.1819-2105T>G | NP_001036.1:n.1819-2105T>G | |
| NM_001045.6:c.1819-2105T>G MANE Select | NP_001036.1:n.1819-2105T>G |