gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006933 (AMR)
Genomes Max Group AF
0.00016068 (AMR)
Exomes Max Group AF
0.00002377 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50064061G>A , CM000684.2:g.50064061G>A | GRCh38 |
| NC_000022.10:g.50502490G>A , CM000684.1:g.50502490G>A | GRCh37 |
| NC_000022.9:g.48844617G>A | NCBI36 |
| NG_009162.1:g.26869C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311597.10:c.1032C>T MANE Select | ENSP00000310375.6:p.Asn344= | |
| ENST00000311597.9:c.1032C>T | ENSP00000310375.5:p.Asn344= | |
| ENST00000395876.6:c.1032C>T | ENSP00000379216.2:p.Asn344= | |
| ENST00000483836.1:n.389C>T | ||
| NM_015166.3:c.1032C>T | NP_055981.1:p.Asn344= | |
| NM_139202.2:c.1032C>T | NP_631941.1:p.Asn344= | |
| XM_011530678.1:c.895-2404C>T | XP_011528980.1:n.895-2404C>T | |
| XR_430476.2:n.1427C>T | ||
| XM_011530678.2:c.895-2404C>T | XP_011528980.1:n.895-2404C>T | |
| XM_017028671.1:c.1032C>T | XP_016884160.1:p.Asn344= | |
| XR_001755180.2:n.1537C>T | ||
| XR_001755181.2:n.1305C>T | ||
| NM_001376472.1:c.1032C>T | NP_001363401.1:p.Asn344= | |
| NM_001376473.1:c.1032C>T | NP_001363402.1:p.Asn344= | |
| NM_001376474.1:c.1032C>T | NP_001363403.1:p.Asn344= | |
| NM_001376475.1:c.1032C>T | NP_001363404.1:p.Asn344= | |
| NM_001376476.1:c.1032C>T | NP_001363405.1:p.Asn344= | |
| NM_001376477.1:c.1032C>T | NP_001363406.1:p.Asn344= | |
| NM_001376478.1:c.1032C>T | NP_001363407.1:p.Asn344= | |
| NM_001376479.1:c.975C>T | NP_001363408.1:p.Asn325= | |
| NM_001376480.1:c.942C>T | NP_001363409.1:p.Asn314= | |
| NM_001376481.1:c.930C>T | NP_001363410.1:p.Asn310= | |
| NM_001376482.1:c.876C>T | NP_001363411.1:p.Asn292= | |
| NM_001376483.1:c.876C>T | NP_001363412.1:p.Asn292= | |
| NM_001376484.1:c.795C>T | NP_001363413.1:p.Asn265= | |
| NM_015166.4:c.1032C>T MANE Select | NP_055981.1:p.Asn344= | |
| NM_139202.3:c.1032C>T | NP_631941.1:p.Asn344= | |
| NR_164811.1:n.1379C>T | ||
| NR_164812.1:n.1163C>T | ||
| NR_164813.1:n.1556C>T |