gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00881309 (NFE)
Genomes Max Group AF
0.00950361 (NFE)
Exomes Max Group AF
0.0087372 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19636711G>A , CM000681.2:g.19636711G>A | GRCh38 |
| NC_000019.9:g.19747520G>A , CM000681.1:g.19747520G>A | GRCh37 |
| NC_000019.8:g.19608520G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000203556.9:c.1323C>T MANE Select | ENSP00000203556.3:p.Ser441= | |
| ENST00000203556.8:c.1323C>T | ENSP00000203556.3:p.Ser441= | |
| ENST00000587238.5:c.1323C>T | ENSP00000467054.1:p.Ser441= | |
| ENST00000587713.1:n.320C>T | ||
| ENST00000593186.1:c.554C>T | ||
| NM_001288998.1:c.1314C>T | NP_001275927.1:p.Ser438= | |
| NM_001288999.1:c.1323C>T | NP_001275928.1:p.Ser441= | |
| NM_016573.3:c.1323C>T | NP_057657.2:p.Ser441= | |
| XM_005259927.1:c.1314C>T | XP_005259984.1:p.Ser438= | |
| XM_011528048.1:c.960C>T | XP_011526350.1:p.Ser320= | |
| XM_005259927.2:c.1314C>T | XP_005259984.1:p.Ser438= | |
| XM_011528048.2:c.960C>T | XP_011526350.1:p.Ser320= | |
| XM_017026861.1:c.1323C>T | XP_016882350.1:p.Ser441= | |
| XM_017026862.1:c.1323C>T | XP_016882351.1:p.Ser441= | |
| NM_016573.4:c.1323C>T MANE Select | NP_057657.2:p.Ser441= | |
| NM_001288998.2:c.1314C>T | NP_001275927.1:p.Ser438= | |
| NM_001288999.2:c.1323C>T | NP_001275928.1:p.Ser441= |