Revel Score:
ENST00000429617
0.695
ENST00000369321
0.695
ENST00000345633
0.695
ENST00000369318 (MANE Select)
0.695
ENST00000369315
0.695
ENST00000452490
0.695
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113725496T>A , CM000672.2:g.113725496T>A | GRCh38 |
| NC_000010.10:g.115485255T>A , CM000672.1:g.115485255T>A | GRCh37 |
| NC_000010.9:g.115475245T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369318.8:c.511T>A MANE Select | ENSP00000358324.4:p.Cys171Ser | |
| ENST00000672138.1:c.508T>A | ENSP00000500735.1:p.Cys170Ser | |
| ENST00000345633.8:c.511T>A | ENSP00000298701.7:p.Cys171Ser | |
| ENST00000369315.5:c.511T>A | ENSP00000358321.1:p.Cys171Ser | |
| ENST00000369318.7:c.511T>A | ENSP00000358324.3:p.Cys171Ser | |
| ENST00000369321.6:c.766T>A | ENSP00000358327.3:p.Cys256Ser | |
| ENST00000369331.8:c.444+67T>A | ENSP00000358337.3:n.444+67T>A | |
| ENST00000429617.5:c.511T>A | ENSP00000400094.1:p.Cys171Ser | |
| ENST00000452490.3:c.436T>A | ENSP00000398107.2:p.Cys146Ser | |
| ENST00000487232.1:n.435T>A | ||
| ENST00000614447.4:c.444+67T>A | ENSP00000478285.1:n.444+67T>A | |
| ENST00000621345.4:c.511T>A | ENSP00000480584.1:p.Cys171Ser | |
| ENST00000621607.4:c.610T>A | ENSP00000478999.1:p.Cys204Ser | |
| NM_001227.4:c.511T>A | NP_001218.1:p.Cys171Ser | |
| NM_001267056.1:c.511T>A | NP_001253985.1:p.Cys171Ser | |
| NM_001267057.1:c.766T>A | NP_001253986.1:p.Cys256Ser | |
| NM_001267058.1:c.436T>A | NP_001253987.1:p.Cys146Ser | |
| NM_033338.5:c.610T>A | NP_203124.1:p.Cys204Ser | |
| NM_033339.4:c.511T>A | NP_203125.1:p.Cys171Ser | |
| NM_033340.3:c.444+67T>A | NP_203126.1:n.444+67T>A | |
| XM_006718017.2:c.553T>A | XP_006718080.1:p.Cys185Ser | |
| XM_006718018.1:c.535T>A | XP_006718081.1:p.Cys179Ser | |
| XM_011540259.1:c.610T>A | XP_011538561.1:p.Cys204Ser | |
| XM_011540260.1:c.412T>A | XP_011538562.1:p.Cys138Ser | |
| NM_001320911.1:c.535T>A | NP_001307840.1:p.Cys179Ser | |
| XM_006718017.3:c.553T>A | XP_006718080.1:p.Cys185Ser | |
| XM_017016763.1:c.568T>A | XP_016872252.1:p.Cys190Ser | |
| XM_017016764.1:c.535T>A | XP_016872253.1:p.Cys179Ser | |
| NM_001227.5:c.511T>A MANE Select | NP_001218.1:p.Cys171Ser | |
| NM_001320911.2:c.535T>A | NP_001307840.1:p.Cys179Ser | |
| NM_033338.6:c.610T>A | NP_203124.1:p.Cys204Ser | |
| NM_033339.5:c.511T>A | NP_203125.1:p.Cys171Ser | |
| NM_033340.4:c.444+67T>A | NP_203126.1:n.444+67T>A | |
| NM_001267056.2:c.511T>A | NP_001253985.1:p.Cys171Ser | |
| NM_001267058.2:c.436T>A | NP_001253987.1:p.Cys146Ser |