gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010376 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00010642 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123706804C>T , CM000674.2:g.123706804C>T | GRCh38 |
| NC_000012.11:g.124191351C>T , CM000674.1:g.124191351C>T | GRCh37 |
| NC_000012.10:g.122757304C>T | NCBI36 |
| NG_030442.1:g.40692C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303372.7:c.1848C>T MANE Select | ENSP00000304941.5:p.Ser616= | |
| ENST00000679504.1:c.1845C>T | ENSP00000505006.1:p.Ser615= | |
| ENST00000680394.1:n.949C>T | ||
| ENST00000680500.1:c.*220C>T | ENSP00000506438.1:n.*220C>T | |
| ENST00000680574.1:c.1713C>T | ENSP00000505356.1:p.Ser571= | |
| ENST00000303372.6:c.1848C>T | ENSP00000304941.5:p.Ser616= | |
| ENST00000426174.6:c.1845C>T | ENSP00000395171.2:p.Ser615= | |
| ENST00000543998.1:n.2620C>T | ||
| NM_001143850.2:c.1845C>T | NP_001137322.1:p.Ser615= | |
| NM_024809.4:c.1848C>T | NP_079085.2:p.Ser616= | |
| XM_005253623.2:c.1713C>T | XP_005253680.1:p.Ser571= | |
| XM_006719605.2:c.1848C>T | XP_006719668.1:p.Ser616= | |
| XM_011538748.1:c.936C>T | XP_011537050.1:p.Ser312= | |
| XM_006719605.3:c.1848C>T | XP_006719668.1:p.Ser616= | |
| XM_017019974.1:c.1710C>T | XP_016875463.1:p.Ser570= | |
| XM_017019975.1:c.936C>T | XP_016875464.1:p.Ser312= | |
| NM_024809.5:c.1848C>T MANE Select | NP_079085.2:p.Ser616= | |
| NM_001143850.3:c.1845C>T | NP_001137322.1:p.Ser615= |