Revel Score:
ENST00000225964 (MANE Select)
0.884
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015393 (EAS)
Exomes Max Group AF
0.00015498 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50186457C>G , CM000679.2:g.50186457C>G | GRCh38 |
| NC_000017.10:g.48263818C>G , CM000679.1:g.48263818C>G | GRCh37 |
| NC_000017.9:g.45618817C>G | NCBI36 |
| NG_007400.1:g.20183G>C , LRG_1:g.20183G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3865G>C MANE Select | ENSP00000225964.6:p.Val1289Leu | |
| ENST00000225964.9:c.3865G>C | ENSP00000225964.5:p.Val1289Leu | |
| ENST00000510710.3:n.534G>C | ||
| NM_000088.3:c.3865G>C , LRG_1t1:c.3865G>C | NP_000079.2:p.Val1289Leu | |
| XM_005257058.3:c.3595G>C | XP_005257115.2:p.Val1199Leu | |
| XM_005257059.3:c.2947G>C | XP_005257116.2:p.Val983Leu | |
| XM_011524341.1:c.3667G>C | XP_011522643.1:p.Val1223Leu | |
| XM_005257058.4:c.3595G>C | XP_005257115.2:p.Val1199Leu | |
| XM_005257059.4:c.2947G>C | XP_005257116.2:p.Val983Leu | |
| NM_000088.4:c.3865G>C MANE Select | NP_000079.2:p.Val1289Leu |