Revel Score:
ENST00000324071 (MANE Select)
0.027
ENST00000330446
0.027
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00118266 (AFR)
Genomes Max Group AF
0.00093793 (AFR)
Exomes Max Group AF
0.00129553 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41016810C>A , CM000681.2:g.41016810C>A | GRCh38 |
| NC_000019.9:g.41522715C>A , CM000681.1:g.41522715C>A | GRCh37 |
| NC_000019.8:g.46214555C>A | NCBI36 |
| NG_007929.1:g.30512C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1459C>A MANE Select | ENSP00000324648.2:p.Arg487Ser | |
| ENST00000598834.2:c.1399C>A | ||
| ENST00000324071.8:c.1459C>A | ENSP00000324648.2:p.Arg487Ser | |
| ENST00000593831.1:c.751C>A | ENSP00000470582.1:p.Arg251Ser | |
| ENST00000597612.1:n.812C>A | ||
| NM_000767.4:c.1459C>A | NP_000758.1:p.Arg487Ser | |
| XM_005258569.3:c.*48C>A | XP_005258626.1:n.*48C>A | |
| XM_011526548.1:c.979C>A | XP_011524850.1:p.Arg327Ser | |
| XM_011526549.1:c.868C>A | XP_011524851.1:p.Arg290Ser | |
| XM_011526550.1:c.859C>A | XP_011524852.1:p.Arg287Ser | |
| NM_000767.5:c.1459C>A MANE Select | NP_000758.1:p.Arg487Ser |