Revel Score:
ENST00000330883
0.667
ENST00000392968
0.667
ENST00000262186 (MANE Select)
0.667
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948471A>C , CM000669.2:g.150948471A>C | GRCh38 |
| NC_000007.13:g.150645559A>C , CM000669.1:g.150645559A>C | GRCh37 |
| NC_000007.12:g.150276492A>C | NCBI36 |
| NG_008916.1:g.34456T>G , LRG_288:g.34456T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3498T>G | ||
| ENST00000262186.10:c.2665T>G MANE Select | ENSP00000262186.5:p.Leu889Val | |
| ENST00000330883.9:c.1645T>G | ENSP00000328531.4:p.Leu549Val | |
| ENST00000262186.9:c.2665T>G | ENSP00000262186.5:p.Leu889Val | |
| ENST00000330883.8:c.1645T>G | ENSP00000328531.4:p.Leu549Val | |
| NM_000238.3:c.2665T>G , LRG_288t1:c.2665T>G | NP_000229.1:p.Leu889Val | |
| NM_172057.2:c.1645T>G , LRG_288t3:c.1645T>G | NP_742054.1:p.Leu549Val | |
| XM_011516185.1:c.2365T>G | XP_011514487.1:p.Leu789Val | |
| XM_011516186.1:c.2665T>G | XP_011514488.1:p.Leu889Val | |
| XM_011516185.2:c.2365T>G | XP_011514487.1:p.Leu789Val | |
| XM_011516186.3:c.2665T>G | XP_011514488.1:p.Leu889Val | |
| XM_017012195.1:c.2515T>G | XP_016867684.1:p.Leu839Val | |
| XM_017012196.1:c.2488T>G | XP_016867685.1:p.Leu830Val | |
| NM_000238.4:c.2665T>G MANE Select | NP_000229.1:p.Leu889Val | |
| NM_172057.3:c.1645T>G | NP_742054.1:p.Leu549Val |