COSMIC:
COSM4128567 (not active)
Revel Score:
ENST00000300060 (MANE Select)
0.085
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49506532 (AFR)
Genomes Max Group AF
0.4915653 (AFR)
Exomes Max Group AF
0.49549894 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89792557C>T , CM000677.2:g.89792557C>T | GRCh38 |
| NC_000015.9:g.90335788C>T , CM000677.1:g.90335788C>T | GRCh37 |
| NC_000015.8:g.88136792C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300060.7:c.2255G>A MANE Select | ENSP00000300060.6:p.Ser752Asn | |
| ENST00000559874.2:c.2255G>A | ENSP00000452934.2:p.Ser752Asn | |
| ENST00000560137.2:c.2255G>A | ENSP00000453413.2:p.Ser752Asn | |
| ENST00000679248.1:c.2255G>A | ENSP00000502886.1:p.Ser752Asn | |
| ENST00000300060.6:c.2255G>A | ENSP00000300060.6:p.Ser752Asn | |
| ENST00000558740.1:n.159G>A | ||
| NM_001150.2:c.2255G>A | NP_001141.2:p.Ser752Asn | |
| XM_005254892.3:c.2255G>A | XP_005254949.1:p.Ser752Asn | |
| XM_011521473.1:c.2255G>A | XP_011519775.1:p.Ser752Asn | |
| XM_005254892.4:c.2255G>A | XP_005254949.1:p.Ser752Asn | |
| NM_001150.3:c.2255G>A MANE Select | NP_001141.2:p.Ser752Asn | |
| NM_001381923.1:c.2255G>A | NP_001368852.1:p.Ser752Asn | |
| NM_001381924.1:c.2255G>A | NP_001368853.1:p.Ser752Asn |