ClinGen Classification:
Classification
Likely Benign
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01315775 (AFR)
Genomes Max Group AF
0.01286362 (AFR)
Exomes Max Group AF
0.01288803 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35860901C>T , CM000667.2:g.35860901C>T | GRCh38 |
| NC_000005.9:g.35861003C>T , CM000667.1:g.35861003C>T | GRCh37 |
| NC_000005.8:g.35896760C>T | NCBI36 |
| NG_009567.1:g.9013C>T , LRG_74:g.9013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.132C>T MANE Select | ENSP00000306157.3:p.Ser44= | |
| ENST00000303115.7:c.132C>T | ENSP00000306157.3:p.Ser44= | |
| ENST00000506850.5:c.132C>T | ENSP00000421207.1:p.Ser44= | |
| ENST00000508941.5:c.132C>T | ENSP00000426426.1:p.Ser44= | |
| ENST00000511031.1:n.266C>T | ||
| ENST00000511982.1:c.132C>T | ENSP00000425309.1:p.Ser44= | |
| ENST00000514217.5:c.132C>T | ENSP00000427688.1:p.Ser44= | |
| ENST00000515665.1:c.132C>T | ENSP00000425538.1:p.Ser44= | |
| NM_002185.3:c.132C>T | NP_002176.2:p.Ser44= | |
| NR_120485.1:n.235C>T | ||
| XM_005248299.2:c.132C>T | XP_005248356.1:p.Ser44= | |
| XM_005248300.1:c.132C>T | XP_005248357.1:p.Ser44= | |
| XM_011514037.1:c.132C>T | XP_011512339.1:p.Ser44= | |
| NM_002185.4:c.132C>T | NP_002176.2:p.Ser44= | |
| NR_120485.2:n.261C>T | ||
| XM_005248299.4:c.132C>T | XP_005248356.1:p.Ser44= | |
| NM_002185.5:c.132C>T MANE Select | NP_002176.2:p.Ser44= | |
| NR_120485.3:n.219C>T |