Revel Score:
ENST00000339994 (MANE Select)
0.958
ENST00000528731
0.958
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387299T>G , CM000673.2:g.17387299T>G | GRCh38 |
| NC_000011.9:g.17408846T>G , CM000673.1:g.17408846T>G | GRCh37 |
| NC_000011.8:g.17365422T>G | NCBI36 |
| NG_012446.1:g.6361A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.532A>C | ENSP00000508090.1:p.Ser178Arg | |
| ENST00000682764.1:c.532A>C | ENSP00000506780.1:p.Ser178Arg | |
| ENST00000339994.5:c.793A>C MANE Select | ENSP00000345708.4:p.Ser265Arg | |
| ENST00000339994.4:c.793A>C | ENSP00000345708.4:p.Ser265Arg | |
| ENST00000528731.1:c.532A>C | ENSP00000434755.1:p.Ser178Arg | |
| NM_000525.3:c.793A>C | NP_000516.3:p.Ser265Arg | |
| NM_001166290.1:c.532A>C | NP_001159762.1:p.Ser178Arg | |
| XM_006718226.2:c.532A>C | XP_006718289.1:p.Ser178Arg | |
| XR_930867.1:n.951A>C | ||
| XM_006718226.3:c.532A>C | XP_006718289.1:p.Ser178Arg | |
| XM_017017680.1:c.532A>C | XP_016873169.1:p.Ser178Arg | |
| NM_001166290.2:c.532A>C | NP_001159762.1:p.Ser178Arg | |
| NM_001377296.1:c.532A>C | NP_001364225.1:p.Ser178Arg | |
| NM_001377297.1:c.532A>C | NP_001364226.1:p.Ser178Arg | |
| NM_000525.4:c.793A>C MANE Select | NP_000516.3:p.Ser265Arg |