Revel Score:
ENST00000348749 (MANE Select)
0.832
ENST00000261007
0.832
ENST00000409542
0.832
ENST00000409219
0.832
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174748184G>C , CM000664.2:g.174748184G>C | GRCh38 |
| NC_000002.11:g.175612912G>C , CM000664.1:g.175612912G>C | GRCh37 |
| NC_000002.10:g.175321158G>C | NCBI36 |
| NG_008172.1:g.21289C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.825C>G | ENSP00000490338.2:p.Cys275Trp | |
| ENST00000672640.1:c.825C>G | ENSP00000500507.1:p.Cys275Trp | |
| ENST00000261007.9:c.1389C>G | ENSP00000261007.5:p.Cys463Trp | |
| ENST00000348749.9:c.1314C>G MANE Select | ENSP00000261008.5:p.Cys438Trp | |
| ENST00000409219.5:c.1074C>G | ENSP00000386611.1:p.Cys358Trp | |
| ENST00000409542.5:c.1068C>G | ENSP00000387026.1:p.Cys356Trp | |
| ENST00000435083.5:c.*958C>G | ENSP00000395805.1:n.*958C>G | |
| NM_000079.3:c.1314C>G | NP_000070.1:p.Cys438Trp | |
| NM_001039523.2:c.1389C>G | NP_001034612.1:p.Cys463Trp | |
| XM_017003256.1:c.1410C>G | XP_016858745.1:p.Cys470Trp | |
| XM_017003257.1:c.1335C>G | XP_016858746.1:p.Cys445Trp | |
| NM_000079.4:c.1314C>G MANE Select | NP_000070.1:p.Cys438Trp | |
| NM_001039523.3:c.1389C>G | NP_001034612.1:p.Cys463Trp |