Revel Score:
ENST00000257555 (MANE Select)
0.377
ENST00000535125
0.377
ENST00000537424
0.377
ENST00000543027
0.377
ENST00000541395
0.377
ENST00000544413
0.377
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120999581C>G , CM000674.2:g.120999581C>G | GRCh38 |
| NC_000012.11:g.121437384C>G , CM000674.1:g.121437384C>G | GRCh37 |
| NC_000012.10:g.119921767C>G | NCBI36 |
| NG_011731.2:g.25836C>G , LRG_522:g.25836C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*469C>G | ENSP00000453965.2:n.*469C>G | |
| ENST00000257555.11:c.1722C>G MANE Select | ENSP00000257555.5:p.Ser574Arg | |
| ENST00000257555.10:c.1722C>G | ENSP00000257555.4:p.Ser574Arg | |
| ENST00000540108.1:c.*1162C>G | ENSP00000445445.1:n.*1162C>G | |
| ENST00000541395.5:c.1815C>G | ENSP00000443112.1:p.Ser605Arg | |
| ENST00000543427.5:c.1185C>G | ENSP00000439721.2:p.Ser395Arg | |
| ENST00000544413.2:c.1743C>G | ENSP00000438804.1:p.Ser581Arg | |
| ENST00000560968.5:c.1539C>G | ||
| ENST00000615446.4:c.510C>G | ENSP00000483994.1:p.Ser170Arg | |
| ENST00000617366.4:c.*131C>G | ENSP00000481967.1:n.*131C>G | |
| NM_000545.5:c.1722C>G , LRG_522t1:c.1722C>G | NP_000536.5:p.Gly574= | |
| NM_000545.6:c.1722C>G | NP_000536.5:p.Gly574= | |
| NM_001306179.1:c.1743C>G | NP_001293108.1:p.Gly581= | |
| XM_005253931.2:c.1815C>G | XP_005253988.1:p.Ser605Arg | |
| XM_024449168.1:c.1815C>G | XP_024304936.1:p.Ser605Arg | |
| NM_000545.8:c.1722C>G MANE Select | NP_000536.6:p.Ser574Arg | |
| NM_001306179.2:c.1743C>G | NP_001293108.2:p.Ser581Arg |