Revel Score:
ENST00000405460 (MANE Select)
0.482
ENST00000296619
0.482
ENST00000425867
0.482
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Genomes Max Group AF
0.00002262 (AMR)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90791195G>A , CM000667.2:g.90791195G>A | GRCh38 |
| NC_000005.9:g.90087012G>A , CM000667.1:g.90087012G>A | GRCh37 |
| NC_000005.8:g.90122768G>A | NCBI36 |
| NG_007083.1:g.237396G>A | |
| NG_007083.2:g.266852G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.14366G>A MANE Select | ENSP00000384582.2:p.Arg4789Gln | |
| ENST00000425867.3:c.3320G>A | ENSP00000392618.3:p.Arg1107Gln | |
| ENST00000507314.2:c.41G>A | ENSP00000491299.1:p.Arg14Gln | |
| ENST00000638510.1:n.1633G>A | ||
| ENST00000638585.1:n.132G>A | ||
| ENST00000638975.1:c.995G>A | ENSP00000492630.1:p.Arg332Gln | |
| ENST00000639431.1:c.265+114986G>A | ENSP00000491057.1:n.265+114986G>A | |
| ENST00000640407.1:c.776G>A | ENSP00000491425.1:p.Arg259Gln | |
| ENST00000405460.6:c.14366G>A | ENSP00000384582.2:p.Arg4789Gln | |
| ENST00000425867.2:c.1349G>A | ENSP00000392618.2:p.Arg450Gln | |
| ENST00000507314.1:n.41G>A | ||
| NM_032119.3:c.14366G>A | NP_115495.3:p.Arg4789Gln | |
| NR_003149.1:n.14379G>A | ||
| XM_011543675.1:c.14363G>A | XP_011541977.1:p.Arg4788Gln | |
| XM_011543676.1:c.14285G>A | XP_011541978.1:p.Arg4762Gln | |
| XM_011543677.1:c.11669G>A | XP_011541979.1:p.Arg3890Gln | |
| XM_011543678.1:c.14366G>A | XP_011541980.1:p.Arg4789Gln | |
| NM_032119.4:c.14366G>A MANE Select | NP_115495.3:p.Arg4789Gln | |
| XM_017009963.2:c.14387G>A | XP_016865452.1:p.Arg4796Gln | |
| XM_017009964.2:c.14384G>A | XP_016865453.1:p.Arg4795Gln | |
| XM_017009965.1:c.14384G>A | XP_016865454.1:p.Arg4795Gln | |
| XM_017009966.2:c.14306G>A | XP_016865455.1:p.Arg4769Gln | |
| XM_017009967.1:c.14291G>A | XP_016865456.1:p.Arg4764Gln | |
| XM_017009968.2:c.14387G>A | XP_016865457.1:p.Arg4796Gln | |
| XM_017009969.2:c.14387G>A | XP_016865458.1:p.Arg4796Gln | |
| XM_017009970.2:c.14387G>A | XP_016865459.1:p.Arg4796Gln | |
| XM_017009971.2:c.14387G>A | XP_016865460.1:p.Arg4796Gln | |
| XM_017009972.1:c.7505G>A | XP_016865461.1:p.Arg2502Gln | |
| XM_017009973.1:c.7484G>A | XP_016865462.1:p.Arg2495Gln | |
| NR_003149.2:n.14382G>A |