Revel Score:
ENST00000296585 (MANE Select)
0.777
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53051537T>C , CM000667.2:g.53051537T>C | GRCh38 |
| NC_000005.9:g.52347367T>C , CM000667.1:g.52347367T>C | GRCh37 |
| NC_000005.8:g.52383124T>C | NCBI36 |
| NG_008330.1:g.67212T>C | |
| NG_008330.2:g.67212T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296585.10:c.757T>C MANE Select | ENSP00000296585.5:p.Phe253Leu | |
| ENST00000296585.9:c.757T>C | ENSP00000296585.5:p.Phe253Leu | |
| ENST00000503810.6:c.*101T>C | ENSP00000426489.1:n.*101T>C | |
| ENST00000509814.5:c.757T>C | ENSP00000424397.1:p.Phe253Leu | |
| ENST00000509960.5:c.757T>C | ENSP00000424642.1:p.Phe253Leu | |
| ENST00000510722.1:c.757T>C | ENSP00000422145.1:p.Phe253Leu | |
| ENST00000513685.5:c.*471T>C | ENSP00000422095.1:n.*471T>C | |
| NM_002203.3:c.757T>C | NP_002194.2:p.Phe253Leu | |
| NR_073103.1:n.900T>C | ||
| NR_073104.1:n.900T>C | ||
| NR_073105.1:n.900T>C | ||
| NR_073106.1:n.900T>C | ||
| NR_073107.1:n.779T>C | ||
| NM_002203.4:c.757T>C MANE Select | NP_002194.2:p.Phe253Leu | |
| NR_073103.2:n.874T>C | ||
| NR_073104.2:n.874T>C | ||
| NR_073105.2:n.874T>C | ||
| NR_073106.2:n.874T>C | ||
| NR_073107.2:n.753T>C |