Revel Score:
ENST00000440501
0.793
ENST00000321666
0.793
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28404743G>C , CM000679.2:g.28404743G>C | GRCh38 |
| NC_000017.10:g.26731761G>C , CM000679.1:g.26731761G>C | GRCh37 |
| NC_000017.9:g.23755888G>C | NCBI36 |
| NG_013306.1:g.6468C>G , LRG_183:g.6468C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612814.5:c.954C>G MANE Select | ENSP00000480703.1:p.Ser318Arg | |
| ENST00000578217.1:n.93C>G | ||
| ENST00000582590.1:n.1008C>G | ||
| ENST00000582735.1:c.79C>G | ||
| ENST00000584995.5:c.732C>G | ENSP00000464190.1:p.Ser244Arg | |
| ENST00000612814.4:c.954C>G | ENSP00000480703.1:p.Ser318Arg | |
| ENST00000618626.1:c.954C>G | ENSP00000483652.1:p.Ser318Arg | |
| NM_001242366.2:c.954C>G | NP_001229295.1:p.Ser318Arg | |
| NM_080669.5:c.954C>G | NP_542400.2:p.Ser318Arg | |
| XM_005277786.2:c.954C>G | XP_005277843.1:p.Ser318Arg | |
| XM_005277786.3:c.954C>G | XP_005277843.1:p.Ser318Arg | |
| XM_017024110.1:c.732C>G | XP_016879599.1:p.Ser244Arg | |
| NM_080669.6:c.954C>G MANE Select | NP_542400.2:p.Ser318Arg | |
| NM_001242366.3:c.954C>G | NP_001229295.1:p.Ser318Arg |