Revel Score:
ENST00000405460 (MANE Select)
0.016
ENST00000296619
0.016
ENST00000399043
0.016
ENST00000504142
0.020
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00375119 (AFR)
Genomes Max Group AF
0.00347206 (AFR)
Exomes Max Group AF
0.003758 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90637827A>T , CM000667.2:g.90637827A>T | GRCh38 |
| NC_000005.9:g.89933644A>T , CM000667.1:g.89933644A>T | GRCh37 |
| NC_000005.8:g.89969400A>T | NCBI36 |
| NG_007083.1:g.84028A>T | |
| NG_007083.2:g.113484A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.2119A>T MANE Select | ENSP00000384582.2:p.Ile707Leu | |
| ENST00000504142.2:n.885A>T | ||
| ENST00000405460.6:c.2119A>T | ENSP00000384582.2:p.Ile707Leu | |
| ENST00000504142.1:c.884A>T | ||
| NM_032119.3:c.2119A>T | NP_115495.3:p.Ile707Leu | |
| NR_003149.1:n.2215A>T | ||
| XM_011543675.1:c.2119A>T | XP_011541977.1:p.Ile707Leu | |
| XM_011543676.1:c.2119A>T | XP_011541978.1:p.Ile707Leu | |
| XM_011543678.1:c.2119A>T | XP_011541980.1:p.Ile707Leu | |
| XM_011543679.1:c.2119A>T | XP_011541981.1:p.Ile707Leu | |
| NM_032119.4:c.2119A>T MANE Select | NP_115495.3:p.Ile707Leu | |
| XM_017009963.2:c.2119A>T | XP_016865452.1:p.Ile707Leu | |
| XM_017009964.2:c.2119A>T | XP_016865453.1:p.Ile707Leu | |
| XM_017009965.1:c.2116A>T | XP_016865454.1:p.Ile706Leu | |
| XM_017009966.2:c.2119A>T | XP_016865455.1:p.Ile707Leu | |
| XM_017009967.1:c.2023A>T | XP_016865456.1:p.Ile675Leu | |
| XM_017009968.2:c.2119A>T | XP_016865457.1:p.Ile707Leu | |
| XM_017009969.2:c.2119A>T | XP_016865458.1:p.Ile707Leu | |
| XM_017009970.2:c.2119A>T | XP_016865459.1:p.Ile707Leu | |
| XM_017009971.2:c.2119A>T | XP_016865460.1:p.Ile707Leu | |
| XM_017009974.2:c.2119A>T | XP_016865463.1:p.Ile707Leu | |
| NR_003149.2:n.2218A>T |