Revel Score:
ENST00000344327 (MANE Select)
0.775
ENST00000532133
0.775
ENST00000348423
0.775
ENST00000360497
0.775
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101473752G>C , CM000673.2:g.101473752G>C | GRCh38 |
| NC_000011.9:g.101344483G>C , CM000673.1:g.101344483G>C | GRCh37 |
| NC_000011.8:g.100849693G>C | NCBI36 |
| NG_011476.1:g.115177C>G | |
| NG_011476.2:g.115177C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.1766C>G MANE Select | ENSP00000340913.3:p.Ser589Cys | |
| ENST00000344327.7:c.1766C>G | ENSP00000340913.3:p.Ser589Cys | |
| ENST00000348423.8:c.1418C>G | ENSP00000343672.4:p.Ser473Cys | |
| ENST00000360497.4:c.1601C>G | ENSP00000353687.4:p.Ser534Cys | |
| ENST00000532133.5:c.1532C>G | ENSP00000435574.1:p.Ser511Cys | |
| NM_004621.5:c.1766C>G | NP_004612.2:p.Ser589Cys | |
| XM_006718898.2:c.1766C>G | XP_006718961.1:p.Ser589Cys | |
| XM_011542968.1:c.1601C>G | XP_011541270.1:p.Ser534Cys | |
| XM_011542969.1:c.1766C>G | XP_011541271.1:p.Ser589Cys | |
| XM_011542968.3:c.1601C>G | XP_011541270.1:p.Ser534Cys | |
| XM_017018221.2:c.1418C>G | XP_016873710.1:p.Ser473Cys | |
| XR_001747948.2:n.2122C>G | ||
| NM_004621.6:c.1766C>G MANE Select | NP_004612.2:p.Ser589Cys |