Revel Score:
ENST00000262577 (MANE Select)
0.082
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143538013T>A , CM000670.2:g.143538013T>A | GRCh38 |
| NC_000008.10:g.144620183T>A , CM000670.1:g.144620183T>A | GRCh37 |
| NC_000008.9:g.144691326T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262577.6:c.1354A>T MANE Select | ENSP00000262577.5:p.Ser452Cys | |
| ENST00000262577.5:c.1354A>T | ENSP00000262577.5:p.Ser452Cys | |
| NM_015117.2:c.1354A>T | NP_055932.2:p.Ser452Cys | |
| XM_006716536.2:c.1540A>T | XP_006716599.2:p.Ser514Cys | |
| XM_011516943.1:c.1396A>T | XP_011515245.1:p.Ser466Cys | |
| XM_011516944.1:c.1396A>T | XP_011515246.1:p.Ser466Cys | |
| XR_928313.1:n.1484A>T | ||
| XM_006716536.3:c.1540A>T | XP_006716599.2:p.Ser514Cys | |
| XM_011516943.2:c.1396A>T | XP_011515245.1:p.Ser466Cys | |
| XM_011516944.2:c.1396A>T | XP_011515246.1:p.Ser466Cys | |
| XM_017013248.1:c.1738A>T | XP_016868737.1:p.Ser580Cys | |
| XM_017013249.1:c.1738A>T | XP_016868738.1:p.Ser580Cys | |
| XR_928313.3:n.1498A>T | ||
| NM_015117.3:c.1354A>T MANE Select | NP_055932.2:p.Ser452Cys |