Revel Score:
ENST00000447944 (MANE Select)
0.553
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00356565 (MID)
Genomes Max Group AF
0.00006807 (NFE)
Exomes Max Group AF
0.003747 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55680879G>A , CM000664.2:g.55680879G>A | GRCh38 |
| NC_000002.11:g.55908014G>A , CM000664.1:g.55908014G>A | GRCh37 |
| NC_000002.10:g.55761518G>A | NCBI36 |
| NG_033012.1:g.18032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.493C>T MANE Select | ENSP00000400646.2:p.Pro165Ser | |
| ENST00000260604.8:c.493C>T | ENSP00000260604.4:p.Pro165Ser | |
| ENST00000415374.5:c.493C>T | ENSP00000393953.1:p.Pro165Ser | |
| ENST00000429805.1:c.*141C>T | ENSP00000411994.1:n.*141C>T | |
| ENST00000447944.6:c.493C>T | ENSP00000400646.2:p.Pro165Ser | |
| NM_033109.4:c.493C>T | NP_149100.2:p.Pro165Ser | |
| XM_005264629.1:c.253C>T | XP_005264686.1:p.Pro85Ser | |
| XM_011533142.1:c.493C>T | XP_011531444.1:p.Pro165Ser | |
| XM_005264629.2:c.253C>T | XP_005264686.1:p.Pro85Ser | |
| XM_017005172.1:c.253C>T | XP_016860661.1:p.Pro85Ser | |
| XR_001739010.1:n.523C>T | ||
| NM_033109.5:c.493C>T MANE Select | NP_149100.2:p.Pro165Ser |