Revel Score:
ENST00000379374 (MANE Select)
0.808
ENST00000537599
0.808
ENST00000535894
0.808
ENST00000418858
0.808
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22133533T>C , CM000685.2:g.22133533T>C | GRCh38 |
| NC_000023.10:g.22151650T>C , CM000685.1:g.22151650T>C | GRCh37 |
| NC_000023.9:g.22061571T>C | NCBI36 |
| NG_007563.2:g.105730T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684745.1:n.987T>C | ||
| ENST00000379374.5:c.1313T>C MANE Select | ENSP00000368682.4:p.Leu438Ser | |
| ENST00000379374.4:c.1313T>C | ENSP00000368682.4:p.Leu438Ser | |
| NM_000444.5:c.1313T>C | NP_000435.3:p.Leu438Ser | |
| NM_001282754.1:c.1313T>C | NP_001269683.1:p.Leu438Ser | |
| XM_011545533.1:c.557T>C | XP_011543835.1:p.Leu186Ser | |
| XM_011545534.1:c.557T>C | XP_011543836.1:p.Leu186Ser | |
| XM_011545535.1:c.1313T>C | XP_011543837.1:p.Leu438Ser | |
| XM_011545536.1:c.206T>C | XP_011543838.1:p.Leu69Ser | |
| XM_011545536.2:c.206T>C | XP_011543838.1:p.Leu69Ser | |
| XM_017029579.1:c.557T>C | XP_016885068.1:p.Leu186Ser | |
| XM_024452390.1:c.1022T>C | XP_024308158.1:p.Leu341Ser | |
| XR_001755695.1:n.1992T>C | ||
| NM_000444.6:c.1313T>C MANE Select | NP_000435.3:p.Leu438Ser | |
| NM_001282754.2:c.1313T>C | NP_001269683.1:p.Leu438Ser |