COSMIC:
COSM4417346 (not active)
COSM4417347 (not active)
Revel Score:
ENST00000409855
0.255
ENST00000259060
0.255
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16633989 (MID)
Genomes Max Group AF
0.12436338 (SAS)
Exomes Max Group AF
0.16806255 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166405843C>G , CM000664.2:g.166405843C>G | GRCh38 |
| NC_000002.11:g.167262353C>G , CM000664.1:g.167262353C>G | GRCh37 |
| NC_000002.10:g.166970599C>G | NCBI36 |
| NG_031928.1:g.86129G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441411.2:c.4786G>C | ENSP00000403846.2:p.Val1596Leu | |
| ENST00000643258.1:c.4786G>C MANE Select | ENSP00000496114.1:p.Val1596Leu | |
| ENST00000409855.5:c.4786G>C | ENSP00000386796.1:p.Val1596Leu | |
| ENST00000424326.5:c.*2591G>C | ENSP00000396600.1:n.*2591G>C | |
| ENST00000619410.4:c.4786G>C | ENSP00000478562.1:p.Val1596Leu | |
| ENST00000621965.4:c.4786G>C | ENSP00000481734.1:p.Val1596Leu | |
| NM_002976.3:c.4786G>C | NP_002967.2:p.Val1596Leu | |
| NR_045628.1:n.5010G>C | ||
| XM_006712680.1:c.4786G>C | XP_006712743.1:p.Val1596Leu | |
| XM_006712681.2:c.4786G>C | XP_006712744.1:p.Val1596Leu | |
| XM_006712682.2:c.4786G>C | XP_006712745.1:p.Val1596Leu | |
| XM_011511615.1:c.4786G>C | XP_011509917.1:p.Val1596Leu | |
| XM_006712680.2:c.4786G>C | XP_006712743.1:p.Val1596Leu | |
| XM_006712681.3:c.4786G>C | XP_006712744.1:p.Val1596Leu | |
| XM_006712682.3:c.4786G>C | XP_006712745.1:p.Val1596Leu | |
| XM_011511615.2:c.4786G>C | XP_011509917.1:p.Val1596Leu | |
| XM_017004667.1:c.4786G>C | XP_016860156.1:p.Val1596Leu | |
| NM_002976.4:c.4786G>C MANE Select | NP_002967.2:p.Val1596Leu |