Revel Score:
ENST00000247933
0.962
ENST00000453894
0.962
ENST00000514224 (MANE Select)
0.962
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002333T>G , CM000666.2:g.1002333T>G | GRCh38 |
| NC_000004.11:g.996121T>G , CM000666.1:g.996121T>G | GRCh37 |
| NC_000004.10:g.986121T>G | NCBI36 |
| NG_008103.1:g.20337T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1037T>G | ENSP00000247933.4:p.Leu346Arg | |
| ENST00000514224.2:c.1037T>G MANE Select | ENSP00000425081.2:p.Leu346Arg | |
| ENST00000652070.1:n.1093T>G | ||
| ENST00000247933.8:c.1037T>G | ENSP00000247933.4:p.Leu346Arg | |
| ENST00000514224.1:c.641T>G | ENSP00000425081.1:p.Leu214Arg | |
| ENST00000514698.5:n.1144T>G | ||
| NM_000203.4:c.1037T>G | NP_000194.2:p.Leu346Arg | |
| NR_110313.1:n.1125T>G | ||
| XM_006713882.2:c.641T>G | XP_006713945.1:p.Leu214Arg | |
| XM_011513459.1:c.1103T>G | XP_011511761.1:p.Leu368Arg | |
| XM_011513460.1:c.896T>G | XP_011511762.1:p.Leu299Arg | |
| XM_011513461.1:c.830T>G | XP_011511763.1:p.Leu277Arg | |
| XM_011513462.1:c.749T>G | XP_011511764.1:p.Leu250Arg | |
| XM_011513463.1:c.749T>G | XP_011511765.1:p.Leu250Arg | |
| XR_924947.1:n.1106T>G | ||
| NM_000203.5:c.1037T>G MANE Select | NP_000194.2:p.Leu346Arg | |
| NM_001363576.1:c.641T>G | NP_001350505.1:p.Leu214Arg | |
| XM_011513461.2:c.830T>G | XP_011511763.1:p.Leu277Arg | |
| XM_017008163.1:c.77T>G | XP_016863652.1:p.Leu26Arg |