Revel Score:
ENST00000393716 (MANE Select)
0.104
ENST00000466380
0.104
ENST00000337940
0.104
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12202764 (AFR)
Genomes Max Group AF
0.12020134 (AFR)
Exomes Max Group AF
0.12235468 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119807329C>T , CM000665.2:g.119807329C>T | GRCh38 |
| NC_000003.11:g.119526176C>T , CM000665.1:g.119526176C>T | GRCh37 |
| NC_000003.10:g.121008866C>T | NCBI36 |
| NG_011856.1:g.31846C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.79C>T MANE Select | ENSP00000377319.3:p.Pro27Ser | |
| ENST00000466380.6:c.79C>T | ENSP00000420297.2:p.Pro27Ser | |
| ENST00000648112.1:c.*102C>T | ENSP00000497876.1:n.*102C>T | |
| ENST00000337940.4:c.196C>T | ENSP00000336528.4:p.Pro66Ser | |
| ENST00000393716.6:c.79C>T | ENSP00000377319.2:p.Pro27Ser | |
| ENST00000466380.5:c.79C>T | ENSP00000420297.1:p.Pro27Ser | |
| ENST00000474090.1:n.367C>T | ||
| NM_003889.3:c.79C>T | NP_003880.3:p.Pro27Ser | |
| NM_022002.2:c.196C>T | NP_071285.1:p.Pro66Ser | |
| NM_033013.2:c.79C>T | NP_148934.1:p.Pro27Ser | |
| NM_003889.4:c.79C>T MANE Select | NP_003880.3:p.Pro27Ser | |
| NM_022002.3:c.196C>T | NP_071285.1:p.Pro66Ser | |
| NM_033013.3:c.79C>T | NP_148934.1:p.Pro27Ser |