Revel Score:
ENST00000334909
0.952
ENST00000352480 (MANE Select)
0.952
ENST00000372394
0.952
ENST00000372393
0.952
ENST00000372386
0.952
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480405G>T , CM000671.2:g.130480405G>T | GRCh38 |
| NC_000009.11:g.133355792G>T , CM000671.1:g.133355792G>T | GRCh37 |
| NC_000009.10:g.132345613G>T | NCBI36 |
| NG_011542.1:g.40699G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.794G>T MANE Select | ENSP00000253004.6:p.Arg265Leu | |
| ENST00000352480.9:c.794G>T | ENSP00000253004.6:p.Arg265Leu | |
| ENST00000372386.6:n.65G>T | ||
| ENST00000372393.7:c.794G>T | ENSP00000361469.2:p.Arg265Leu | |
| ENST00000372394.5:c.794G>T | ENSP00000361471.1:p.Arg265Leu | |
| ENST00000470849.4:n.519G>T | ||
| ENST00000492400.5:n.303G>T | ||
| ENST00000493984.6:n.571G>T | ||
| NM_000050.4:c.794G>T | NP_000041.2:p.Arg265Leu | |
| NM_054012.3:c.794G>T | NP_446464.1:p.Arg265Leu | |
| XM_005272200.2:c.794G>T | XP_005272257.1:p.Arg265Leu | |
| XM_011518705.1:c.908G>T | XP_011517007.1:p.Arg303Leu | |
| XM_005272200.3:c.794G>T | XP_005272257.1:p.Arg265Leu | |
| XM_011518705.2:c.908G>T | XP_011517007.1:p.Arg303Leu | |
| XM_017014729.1:c.890G>T | XP_016870218.1:p.Arg297Leu | |
| NM_054012.4:c.794G>T MANE Select | NP_446464.1:p.Arg265Leu |