Revel Score:
ENST00000334909
0.953
ENST00000352480 (MANE Select)
0.953
ENST00000372394
0.953
ENST00000372393
0.953
ENST00000372386
0.953
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130499548T>C , CM000671.2:g.130499548T>C | GRCh38 |
| NC_000009.11:g.133374935T>C , CM000671.1:g.133374935T>C | GRCh37 |
| NC_000009.10:g.132364756T>C | NCBI36 |
| NG_011542.1:g.59842T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.1171T>C MANE Select | ENSP00000253004.6:p.Phe391Leu | |
| ENST00000352480.9:c.1171T>C | ENSP00000253004.6:p.Phe391Leu | |
| ENST00000372386.6:n.442T>C | ||
| ENST00000372393.7:c.1171T>C | ENSP00000361469.2:p.Phe391Leu | |
| ENST00000372394.5:c.1171T>C | ENSP00000361471.1:p.Phe391Leu | |
| NM_000050.4:c.1171T>C | NP_000041.2:p.Phe391Leu | |
| NM_054012.3:c.1171T>C | NP_446464.1:p.Phe391Leu | |
| XM_005272200.2:c.1171T>C | XP_005272257.1:p.Phe391Leu | |
| XM_011518705.1:c.1285T>C | XP_011517007.1:p.Phe429Leu | |
| XR_930393.1:n.1059+399A>G | ||
| XM_005272200.3:c.1171T>C | XP_005272257.1:p.Phe391Leu | |
| XM_011518705.2:c.1285T>C | XP_011517007.1:p.Phe429Leu | |
| XM_017014729.1:c.1267T>C | XP_016870218.1:p.Phe423Leu | |
| XR_930393.2:n.1101+399A>G | ||
| NM_054012.4:c.1171T>C MANE Select | NP_446464.1:p.Phe391Leu |