Revel Score:
ENST00000262577 (MANE Select)
0.056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143538011G>T , CM000670.2:g.143538011G>T | GRCh38 |
| NC_000008.10:g.144620181G>T , CM000670.1:g.144620181G>T | GRCh37 |
| NC_000008.9:g.144691324G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262577.6:c.1356C>A MANE Select | ENSP00000262577.5:p.Ser452Arg | |
| ENST00000262577.5:c.1356C>A | ENSP00000262577.5:p.Ser452Arg | |
| NM_015117.2:c.1356C>A | NP_055932.2:p.Ser452Arg | |
| XM_006716536.2:c.1542C>A | XP_006716599.2:p.Ser514Arg | |
| XM_011516943.1:c.1398C>A | XP_011515245.1:p.Ser466Arg | |
| XM_011516944.1:c.1398C>A | XP_011515246.1:p.Ser466Arg | |
| XR_928313.1:n.1486C>A | ||
| XM_006716536.3:c.1542C>A | XP_006716599.2:p.Ser514Arg | |
| XM_011516943.2:c.1398C>A | XP_011515245.1:p.Ser466Arg | |
| XM_011516944.2:c.1398C>A | XP_011515246.1:p.Ser466Arg | |
| XM_017013248.1:c.1740C>A | XP_016868737.1:p.Ser580Arg | |
| XM_017013249.1:c.1740C>A | XP_016868738.1:p.Ser580Arg | |
| XR_928313.3:n.1500C>A | ||
| NM_015117.3:c.1356C>A MANE Select | NP_055932.2:p.Ser452Arg |