Revel Score:
ENST00000316673 (MANE Select)
0.948
ENST00000457232
0.948
ENST00000316099
0.948
ENST00000443598
0.948
ENST00000338692
0.948
ENST00000415691
0.948
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44406132G>A , CM000682.2:g.44406132G>A | GRCh38 |
| NC_000020.10:g.43034772G>A , CM000682.1:g.43034772G>A | GRCh37 |
| NC_000020.9:g.42468186G>A | NCBI36 |
| NG_009818.1:g.55332G>A , LRG_483:g.55332G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.124G>A MANE Select | ENSP00000315180.4:p.Gly42Arg | |
| ENST00000316099.10:c.190G>A | ENSP00000312987.3:p.Gly64Arg | |
| ENST00000619550.5:c.164G>A | ||
| ENST00000681977.1:c.166G>A | ENSP00000507189.1:p.Gly56Arg | |
| ENST00000682169.1:c.143G>A | ||
| ENST00000683148.1:n.166G>A | ||
| ENST00000683657.1:n.166G>A | ||
| ENST00000684046.1:c.166G>A | ENSP00000507555.1:p.Gly56Arg | |
| ENST00000684136.1:c.166G>A | ENSP00000507389.1:p.Gly56Arg | |
| ENST00000684476.1:c.147G>A | ENSP00000507529.1:p.Ala49= | |
| ENST00000316099.9:c.190G>A | ENSP00000312987.3:p.Gly64Arg | |
| ENST00000316099.8:c.190G>A | ENSP00000312987.3:p.Gly64Arg | |
| ENST00000316673.8:c.124G>A | ENSP00000315180.4:p.Gly42Arg | |
| ENST00000372920.1:c.281G>A | ENSP00000362011.1:p.Arg94Gln | |
| ENST00000415691.2:c.190G>A | ENSP00000412111.1:p.Gly64Arg | |
| ENST00000443598.6:c.190G>A | ENSP00000410911.2:p.Gly64Arg | |
| ENST00000457232.5:c.124G>A | ENSP00000396216.1:p.Gly42Arg | |
| ENST00000609262.5:c.115G>A | ENSP00000476310.1:p.Gly39Arg | |
| ENST00000609795.5:c.124G>A | ENSP00000476609.1:p.Gly42Arg | |
| ENST00000619550.4:c.115G>A | ENSP00000481331.1:p.Gly39Arg | |
| NM_000457.4:c.190G>A , LRG_483t2:c.190G>A | NP_000448.3:p.Gly64Arg | |
| NM_001030003.2:c.124G>A | NP_001025174.1:p.Gly42Arg | |
| NM_001030004.2:c.124G>A | NP_001025175.1:p.Gly42Arg | |
| NM_001258355.1:c.169G>A | NP_001245284.1:p.Gly57Arg | |
| NM_001287182.1:c.115G>A | NP_001274111.1:p.Gly39Arg | |
| NM_001287183.1:c.115G>A , LRG_483t3:c.115G>A | NP_001274112.1:p.Gly39Arg | |
| NM_001287184.1:c.115G>A | NP_001274113.1:p.Gly39Arg | |
| NM_175914.4:c.124G>A , LRG_483t1:c.124G>A | NP_787110.2:p.Gly42Arg | |
| NM_178849.2:c.190G>A | NP_849180.1:p.Gly64Arg | |
| NM_178850.2:c.190G>A | NP_849181.1:p.Gly64Arg | |
| XM_005260407.2:c.307G>A | XP_005260464.1:p.Gly103Arg | |
| XM_011528797.1:c.238G>A | XP_011527099.1:p.Gly80Arg | |
| XM_011528798.1:c.238G>A | XP_011527100.1:p.Gly80Arg | |
| XM_005260407.4:c.307G>A | XP_005260464.1:p.Gly103Arg | |
| NM_001030003.3:c.124G>A | NP_001025174.1:p.Gly42Arg | |
| NM_001030004.3:c.124G>A | NP_001025175.1:p.Gly42Arg | |
| NM_001258355.2:c.169G>A | NP_001245284.1:p.Gly57Arg | |
| NM_001287182.2:c.115G>A | NP_001274111.1:p.Gly39Arg | |
| NM_001287184.2:c.115G>A | NP_001274113.1:p.Gly39Arg | |
| NM_178849.3:c.190G>A | NP_849180.1:p.Gly64Arg | |
| NM_178850.3:c.190G>A | NP_849181.1:p.Gly64Arg | |
| NM_000457.5:c.190G>A | NP_000448.3:p.Gly64Arg | |
| NM_000457.6:c.190G>A | NP_000448.3:p.Gly64Arg | |
| NM_001287183.2:c.115G>A | NP_001274112.1:p.Gly39Arg | |
| NM_175914.5:c.124G>A MANE Select | NP_787110.2:p.Gly42Arg |