gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61818321 (EAS)
Genomes Max Group AF
0.61818321 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.109850287T>G , CM000667.2:g.109850287T>G | GRCh38 |
| NC_000005.9:g.109185988T>G , CM000667.1:g.109185988T>G | GRCh37 |
| NC_000005.8:g.109213887T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261483.5:c.2976+2497T>G MANE Select | ENSP00000261483.4:n.2976+2497T>G | |
| ENST00000261483.4:c.2976+2497T>G | ENSP00000261483.4:n.2976+2497T>G | |
| NM_002372.3:c.2976+2497T>G | NP_002363.2:n.2976+2497T>G | |
| XM_011543394.1:c.2829+2497T>G | XP_011541696.1:n.2829+2497T>G | |
| XM_017009472.1:c.2829+2497T>G | XP_016864961.1:n.2829+2497T>G | |
| XM_024446048.1:c.2382+2497T>G | XP_024301816.1:n.2382+2497T>G | |
| XR_001742067.2:n.4101+2497T>G | ||
| NM_002372.4:c.2976+2497T>G MANE Select | NP_002363.2:n.2976+2497T>G |