Revel Score:
ENST00000405460 (MANE Select)
0.236
ENST00000296619
0.236
ENST00000399043
0.236
ENST00000504142
0.057
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00240436 (AFR)
Genomes Max Group AF
0.00215753 (AFR)
Exomes Max Group AF
0.00243954 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90635129T>G , CM000667.2:g.90635129T>G | GRCh38 |
| NC_000005.9:g.89930946T>G , CM000667.1:g.89930946T>G | GRCh37 |
| NC_000005.8:g.89966702T>G | NCBI36 |
| NG_007083.1:g.81330T>G | |
| NG_007083.2:g.110786T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.1855T>G MANE Select | ENSP00000384582.2:p.Leu619Val | |
| ENST00000504142.2:n.621T>G | ||
| ENST00000405460.6:c.1855T>G | ENSP00000384582.2:p.Leu619Val | |
| ENST00000504142.1:c.620T>G | ||
| NM_032119.3:c.1855T>G | NP_115495.3:p.Leu619Val | |
| NR_003149.1:n.1951T>G | ||
| XM_011543675.1:c.1855T>G | XP_011541977.1:p.Leu619Val | |
| XM_011543676.1:c.1855T>G | XP_011541978.1:p.Leu619Val | |
| XM_011543678.1:c.1855T>G | XP_011541980.1:p.Leu619Val | |
| XM_011543679.1:c.1855T>G | XP_011541981.1:p.Leu619Val | |
| NM_032119.4:c.1855T>G MANE Select | NP_115495.3:p.Leu619Val | |
| XM_017009963.2:c.1855T>G | XP_016865452.1:p.Leu619Val | |
| XM_017009964.2:c.1855T>G | XP_016865453.1:p.Leu619Val | |
| XM_017009965.1:c.1852T>G | XP_016865454.1:p.Leu618Val | |
| XM_017009966.2:c.1855T>G | XP_016865455.1:p.Leu619Val | |
| XM_017009967.1:c.1759T>G | XP_016865456.1:p.Leu587Val | |
| XM_017009968.2:c.1855T>G | XP_016865457.1:p.Leu619Val | |
| XM_017009969.2:c.1855T>G | XP_016865458.1:p.Leu619Val | |
| XM_017009970.2:c.1855T>G | XP_016865459.1:p.Leu619Val | |
| XM_017009971.2:c.1855T>G | XP_016865460.1:p.Leu619Val | |
| XM_017009974.2:c.1855T>G | XP_016865463.1:p.Leu619Val | |
| NR_003149.2:n.1954T>G |