gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005937 (SAS)
Genomes Max Group AF
0.00000798 (AFR)
Exomes Max Group AF
0.00005395 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44304275C>T , CM000664.2:g.44304275C>T | GRCh38 |
| NC_000002.11:g.44531414C>T , CM000664.1:g.44531414C>T | GRCh37 |
| NC_000002.10:g.44384918C>T | NCBI36 |
| NG_008233.1:g.33818C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260649.11:c.1269C>T MANE Select | ENSP00000260649.6:p.Ser423= | |
| ENST00000649044.1:c.*1280C>T | ENSP00000497083.1:n.*1280C>T | |
| ENST00000260649.10:c.1269C>T | ENSP00000260649.6:p.Ser423= | |
| ENST00000409229.7:c.1269C>T | ENSP00000386620.3:p.Ser423= | |
| ENST00000409294.5:c.129C>T | ENSP00000386852.1:p.Ser43= | |
| ENST00000409380.5:c.435C>T | ENSP00000386709.1:p.Ser145= | |
| ENST00000409387.5:c.1269C>T | ENSP00000387308.1:p.Ser423= | |
| ENST00000409740.3:c.162C>T | ENSP00000386677.3:p.Ser54= | |
| ENST00000409741.5:c.1269C>T | ENSP00000386954.1:p.Ser423= | |
| ENST00000611973.4:c.1269C>T | ENSP00000483618.1:p.Ser423= | |
| NM_000341.3:c.1269C>T | NP_000332.2:p.Ser423= | |
| XM_011533047.1:c.1269C>T | XP_011531349.1:p.Ser423= | |
| XM_011533047.3:c.1269C>T | XP_011531349.1:p.Ser423= | |
| NM_000341.4:c.1269C>T MANE Select | NP_000332.2:p.Ser423= |