Revel Score:
ENST00000298139 (MANE Select)
0.073
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31081176G>C , CM000670.2:g.31081176G>C | GRCh38 |
| NC_000008.10:g.30938692G>C , CM000670.1:g.30938692G>C | GRCh37 |
| NC_000008.9:g.31058234G>C | NCBI36 |
| NG_008870.1:g.52915G>C , LRG_524:g.52915G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.1149G>C MANE Select | ENSP00000298139.5:p.Leu383Phe | |
| ENST00000650667.1:c.*763G>C | ENSP00000498593.1:n.*763G>C | |
| ENST00000651642.1:c.444G>C | ENSP00000498779.1:p.Leu148Phe | |
| ENST00000298139.5:c.1149G>C | ENSP00000298139.5:p.Leu383Phe | |
| NM_000553.4:c.1149G>C , LRG_524t1:c.1149G>C | NP_000544.2:p.Leu383Phe | |
| XM_011544639.1:c.1149G>C | XP_011542941.1:p.Leu383Phe | |
| XR_949470.1:n.1422G>C | ||
| XR_949471.1:n.1422G>C | ||
| XR_949472.1:n.1422G>C | ||
| NM_000553.5:c.1149G>C | NP_000544.2:p.Leu383Phe | |
| XM_011544639.3:c.1149G>C | XP_011542941.1:p.Leu383Phe | |
| XM_024447265.1:c.939G>C | XP_024303033.1:p.Leu313Phe | |
| XR_949470.3:n.1450G>C | ||
| XR_949471.3:n.1450G>C | ||
| XR_949472.3:n.1450G>C | ||
| NM_000553.6:c.1149G>C MANE Select | NP_000544.2:p.Leu383Phe |