gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00064231 (AFR)
Genomes Max Group AF
0.00052066 (AFR)
Exomes Max Group AF
0.00062756 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18625196C>T , CM000685.2:g.18625196C>T | GRCh38 |
| NC_000023.10:g.18643316C>T , CM000685.1:g.18643316C>T | GRCh37 |
| NC_000023.9:g.18553237C>T | NCBI36 |
| NG_008475.1:g.204592C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.2445C>T MANE Select | ENSP00000485244.1:p.Ser815= | |
| ENST00000635828.1:c.2445C>T | ENSP00000490170.1:p.Ser815= | |
| ENST00000674046.1:c.2568C>T | ENSP00000501174.1:p.Ser856= | |
| ENST00000379989.6:c.2445C>T | ENSP00000369325.3:p.Ser815= | |
| ENST00000379996.7:c.2445C>T | ENSP00000369332.3:p.Ser815= | |
| ENST00000623535.1:c.2445C>T | ENSP00000485244.1:p.Ser815= | |
| NM_001037343.1:c.2445C>T | NP_001032420.1:p.Ser815= | |
| NM_003159.2:c.2445C>T | NP_003150.1:p.Ser815= | |
| XM_011545569.1:c.2517C>T | XP_011543871.1:p.Ser839= | |
| XM_011545570.1:c.2436C>T | XP_011543872.1:p.Ser812= | |
| XR_950484.1:n.2820C>T | ||
| NM_001323289.1:c.2445C>T | NP_001310218.1:p.Ser815= | |
| NM_001323289.2:c.2445C>T MANE Select | NP_001310218.1:p.Ser815= | |
| NM_001037343.2:c.2445C>T | NP_001032420.1:p.Ser815= | |
| NM_003159.3:c.2445C>T | NP_003150.1:p.Ser815= |