Revel Score:
ENST00000343257 (MANE Select)
0.727
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143339527G>C , CM000669.2:g.143339527G>C | GRCh38 |
| NC_000007.13:g.143036620G>C , CM000669.1:g.143036620G>C | GRCh37 |
| NC_000007.12:g.142746742G>C | NCBI36 |
| NG_009815.1:g.28402G>C | |
| NG_009815.2:g.28402G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1488G>C | ENSP00000498052.2:p.Arg496Ser | |
| ENST00000343257.7:c.1488G>C MANE Select | ENSP00000339867.2:p.Arg496Ser | |
| ENST00000432192.6:c.1312G>C | ||
| ENST00000343257.6:c.1488G>C | ENSP00000339867.2:p.Arg496Ser | |
| NM_000083.2:c.1488G>C | NP_000074.2:p.Arg496Ser | |
| NR_046453.1:n.1428G>C | ||
| XM_011515781.1:c.1512G>C | XP_011514083.1:p.Arg504Ser | |
| XM_011515782.1:c.234G>C | XP_011514084.1:p.Arg78Ser | |
| XM_011515782.2:c.234G>C | XP_011514084.1:p.Arg78Ser | |
| XM_017011739.1:c.1062G>C | XP_016867228.1:p.Arg354Ser | |
| XM_017011740.1:c.1038G>C | XP_016867229.1:p.Arg346Ser | |
| NM_000083.3:c.1488G>C MANE Select | NP_000074.3:p.Arg496Ser | |
| NR_046453.2:n.1443G>C |