gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90694644 (EAS)
Genomes Max Group AF
0.90694644 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45508837T>C , CM000677.2:g.45508837T>C | GRCh38 |
| NC_000015.9:g.45801035T>C , CM000677.1:g.45801035T>C | GRCh37 |
| NC_000015.8:g.43588327T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261867.5:c.538+2301A>G MANE Select | ENSP00000261867.3:n.538+2301A>G | |
| ENST00000261867.4:c.538+2301A>G | ENSP00000261867.3:n.538+2301A>G | |
| ENST00000559667.2:n.420+2301A>G | ||
| NM_013309.4:c.538+2301A>G | NP_037441.2:n.538+2301A>G | |
| XM_011521997.1:c.538+2301A>G | XP_011520299.1:n.538+2301A>G | |
| NM_001321036.1:c.538+2301A>G | NP_001307965.1:n.538+2301A>G | |
| NM_013309.5:c.538+2301A>G | NP_037441.2:n.538+2301A>G | |
| XM_011521997.3:c.538+2301A>G | XP_011520299.1:n.538+2301A>G | |
| XM_017022560.2:c.538+2301A>G | XP_016878049.1:n.538+2301A>G | |
| NM_013309.6:c.538+2301A>G MANE Select | NP_037441.2:n.538+2301A>G | |
| NM_001321036.2:c.538+2301A>G | NP_001307965.1:n.538+2301A>G |