Revel Score:
ENST00000294304 (MANE Select)
0.492
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68406721G>C , CM000673.2:g.68406721G>C | GRCh38 |
| NC_000011.9:g.68174189G>C , CM000673.1:g.68174189G>C | GRCh37 |
| NC_000011.8:g.67930765G>C | NCBI36 |
| NG_015835.1:g.99082G>C | |
| NG_015835.2:g.99082G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.1999G>C MANE Select | ENSP00000294304.6:p.Val667Leu | |
| ENST00000294304.11:c.1999G>C | ENSP00000294304.6:p.Val667Leu | |
| ENST00000529993.5:c.*605G>C | ENSP00000436652.1:n.*605G>C | |
| NM_001291902.1:c.256G>C | NP_001278831.1:p.Val86Leu | |
| NM_002335.3:c.1999G>C | NP_002326.2:p.Val667Leu | |
| XM_005273994.2:c.1999G>C | XP_005274051.1:p.Val667Leu | |
| XM_011545029.1:c.2026G>C | XP_011543331.1:p.Val676Leu | |
| XM_011545030.1:c.2026G>C | XP_011543332.1:p.Val676Leu | |
| XM_011545031.1:c.2026G>C | XP_011543333.1:p.Val676Leu | |
| XR_949925.1:n.2041G>C | ||
| XR_949926.1:n.2041G>C | ||
| XM_017017735.1:c.256G>C | XP_016873224.1:p.Val86Leu | |
| XR_001747874.1:n.2041G>C | ||
| XR_949925.2:n.2041G>C | ||
| XR_949926.2:n.2041G>C | ||
| NM_002335.4:c.1999G>C MANE Select | NP_002326.2:p.Val667Leu | |
| NM_001291902.2:c.256G>C | NP_001278831.1:p.Val86Leu |