Revel Score:
ENST00000503335 (MANE Select)
0.756
ENST00000274473
0.756
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127435480T>A , CM000667.2:g.127435480T>A | GRCh38 |
| NC_000005.9:g.126771172T>A , CM000667.1:g.126771172T>A | GRCh37 |
| NC_000005.8:g.126799071T>A | NCBI36 |
| NG_032072.1:g.149717T>A | |
| NG_032072.2:g.149717T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503335.7:c.2095T>A MANE Select | ENSP00000423354.2:p.Cys699Ser | |
| ENST00000274473.6:c.2095T>A | ENSP00000274473.6:p.Cys699Ser | |
| ENST00000503335.6:c.2095T>A | ENSP00000423354.2:p.Cys699Ser | |
| ENST00000506709.1:n.336T>A | ||
| NM_001256545.1:c.2095T>A | NP_001243474.1:p.Cys699Ser | |
| NM_032446.2:c.2095T>A | NP_115822.1:p.Cys699Ser | |
| XM_011543692.1:c.2095T>A | XP_011541994.1:p.Cys699Ser | |
| XM_011543693.1:c.2095T>A | XP_011541995.1:p.Cys699Ser | |
| XM_011543694.1:c.2095T>A | XP_011541996.1:p.Cys699Ser | |
| XM_017009987.1:c.2260T>A | XP_016865476.1:p.Cys754Ser | |
| XM_017009988.1:c.955T>A | XP_016865477.1:p.Cys319Ser | |
| NM_001256545.2:c.2095T>A MANE Select | NP_001243474.1:p.Cys699Ser | |
| NM_032446.3:c.2095T>A | NP_115822.1:p.Cys699Ser |