gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1531023 (SAS)
Genomes Max Group AF
0.1506641 (SAS)
Exomes Max Group AF
0.1527779 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31590014G>A , CM000668.2:g.31590014G>A | GRCh38 |
| NC_000006.11:g.31557791G>A , CM000668.1:g.31557791G>A | GRCh37 |
| NC_000006.10:g.31665770G>A | NCBI36 |
| NG_021176.1:g.7972C>T | |
| NG_030378.1:g.8836G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340027.10:c.156C>T MANE Select | ENSP00000342156.5:p.Ser52= | |
| ENST00000340027.9:c.156C>T | ENSP00000342156.5:p.Ser52= | |
| ENST00000376071.4:c.156C>T | ENSP00000365239.4:p.Ser52= | |
| ENST00000376072.7:c.156C>T | ENSP00000365240.3:p.Ser52= | |
| ENST00000376073.8:c.156C>T | ENSP00000365241.4:p.Ser52= | |
| ENST00000491161.1:n.216C>T | ||
| ENST00000495600.5:n.23-115C>T | ||
| NM_001145466.1:c.156C>T | NP_001138938.1:p.Ser52= | |
| NM_001145467.1:c.156C>T | NP_001138939.1:p.Ser52= | |
| NM_147130.2:c.156C>T | NP_667341.1:p.Ser52= | |
| XM_006715049.2:c.156C>T | XP_006715112.1:p.Ser52= | |
| XM_011514459.1:c.156C>T | XP_011512761.1:p.Ser52= | |
| XM_006715049.3:c.156C>T | XP_006715112.1:p.Ser52= | |
| XM_011514459.2:c.156C>T | XP_011512761.1:p.Ser52= | |
| NM_147130.3:c.156C>T MANE Select | NP_667341.1:p.Ser52= | |
| NM_001145466.2:c.156C>T | NP_001138938.1:p.Ser52= | |
| NM_001145467.2:c.156C>T | NP_001138939.1:p.Ser52= |