gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00163934 (MID)
Genomes Max Group AF
0.000502 (AMR)
Exomes Max Group AF
0.00140291 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39499275C>T , CM000681.2:g.39499275C>T | GRCh38 |
| NC_000019.9:g.39989915C>T , CM000681.1:g.39989915C>T | GRCh37 |
| NC_000019.8:g.44681755C>T | NCBI36 |
| NG_008256.1:g.5359C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.153C>T MANE Select | ENSP00000348810.4:p.Ser51= | |
| ENST00000205143.4:c.153C>T | ENSP00000205143.3:p.Ser51= | |
| ENST00000356433.9:c.153C>T | ENSP00000348810.4:p.Ser51= | |
| ENST00000596614.5:c.153C>T | ENSP00000471688.1:p.Ser51= | |
| ENST00000600437.1:n.233C>T | ||
| ENST00000600579.1:n.171C>T | ||
| NM_016941.3:c.153C>T | NP_058637.1:p.Ser51= | |
| NM_203486.2:c.153C>T | NP_982353.1:p.Ser51= | |
| NM_016941.4:c.153C>T | NP_058637.1:p.Ser51= | |
| NM_203486.3:c.153C>T MANE Select | NP_982353.1:p.Ser51= |