Revel Score:
ENST00000456935 (MANE Select)
0.101
ENST00000536796
0.101
ENST00000221363
0.101
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38134617 (AFR)
Genomes Max Group AF
0.37793366 (AFR)
Exomes Max Group AF
0.38214314 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12663394G>C , CM000681.2:g.12663394G>C | GRCh38 |
| NC_000019.9:g.12774208G>C , CM000681.1:g.12774208G>C | GRCh37 |
| NC_000019.8:g.12635208G>C | NCBI36 |
| NG_008318.1:g.8384C>G | |
| NG_015814.1:g.1591G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.832C>G MANE Select | ENSP00000395473.2:p.Leu278Val | |
| ENST00000221363.8:c.832C>G | ENSP00000221363.4:p.Leu278Val | |
| ENST00000456935.6:c.832C>G | ENSP00000395473.2:p.Leu278Val | |
| ENST00000462144.1:n.25C>G | ||
| ENST00000466794.5:n.814C>G | ||
| NM_000528.3:c.832C>G | NP_000519.2:p.Leu278Val | |
| NM_001173498.1:c.832C>G | NP_001166969.1:p.Leu278Val | |
| XM_005259913.1:c.832C>G | XP_005259970.1:p.Leu278Val | |
| XM_005259913.2:c.832C>G | XP_005259970.1:p.Leu278Val | |
| XM_024451518.1:c.-187C>G | XP_024307286.1:n.-187C>G | |
| NM_000528.4:c.832C>G MANE Select | NP_000519.2:p.Leu278Val | |
| NM_001173498.2:c.832C>G | NP_001166969.1:p.Leu278Val |