gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005137 (SAS)
Exomes Max Group AF
0.00005395 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3770771C>T , CM000678.2:g.3770771C>T | GRCh38 |
| NC_000016.9:g.3820772C>T , CM000678.1:g.3820772C>T | GRCh37 |
| NC_000016.8:g.3760773C>T | NCBI36 |
| NG_009873.1:g.114350G>A | |
| NG_009873.2:g.114943G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.2679G>A MANE Select | ENSP00000262367.5:p.Ser893= | |
| ENST00000262367.9:c.2679G>A | ENSP00000262367.5:p.Ser893= | |
| ENST00000382070.7:c.2565G>A | ENSP00000371502.3:p.Ser855= | |
| ENST00000570939.2:c.1284G>A | ENSP00000461002.2:p.Ser428= | |
| NM_001079846.1:c.2565G>A | NP_001073315.1:p.Ser855= | |
| NM_004380.2:c.2679G>A | NP_004371.2:p.Ser893= | |
| XM_005255124.3:c.2634G>A | XP_005255181.1:p.Ser878= | |
| XM_005255125.3:c.2464-1418G>A | XP_005255182.1:n.2464-1418G>A | |
| XM_006720848.2:c.2679G>A | XP_006720911.1:p.Ser893= | |
| XM_011522380.1:c.2625G>A | XP_011520682.1:p.Ser875= | |
| XM_011522381.1:c.1926G>A | XP_011520683.1:p.Ser642= | |
| XM_011522382.1:c.2679G>A | XP_011520684.1:p.Ser893= | |
| XM_005255124.4:c.2634G>A | XP_005255181.1:p.Ser878= | |
| XM_005255125.4:c.2464-1418G>A | XP_005255182.1:n.2464-1418G>A | |
| XM_006720848.3:c.2679G>A | XP_006720911.1:p.Ser893= | |
| XM_011522381.2:c.1926G>A | XP_011520683.1:p.Ser642= | |
| XM_011522382.3:c.2679G>A | XP_011520684.1:p.Ser893= | |
| XM_017022944.1:c.2673G>A | XP_016878433.1:p.Ser891= | |
| NM_004380.3:c.2679G>A MANE Select | NP_004371.2:p.Ser893= |