COSMIC:
COSM4988371 (not active)
Revel Score:
ENST00000544665 (MANE Select)
0.057
ENST00000287497
0.057
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14681482 (MID)
Genomes Max Group AF
0.1134514 (NFE)
Exomes Max Group AF
0.14585757 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31265490G>A , CM000678.2:g.31265490G>A | GRCh38 |
| NC_000016.9:g.31276811G>A , CM000678.1:g.31276811G>A | GRCh37 |
| NC_000016.8:g.31184312G>A | NCBI36 |
| NG_011719.1:g.10524G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544665.9:c.230G>A MANE Select | ENSP00000441691.3:p.Arg77His | |
| ENST00000648685.1:c.230G>A | ENSP00000496959.1:p.Arg77His | |
| ENST00000287497.12:c.230G>A | ENSP00000287497.8:p.Arg77His | |
| ENST00000544665.7:c.230G>A | ENSP00000441691.2:p.Arg77His | |
| NM_000632.3:c.230G>A | NP_000623.2:p.Arg77His | |
| NM_001145808.1:c.230G>A | NP_001139280.1:p.Arg77His | |
| XM_006721045.1:c.230G>A | XP_006721108.1:p.Arg77His | |
| XM_011545850.1:c.15G>A | XP_011544152.1:p.Pro5= | |
| XM_011545851.1:c.230G>A | XP_011544153.1:p.Arg77His | |
| XR_950796.1:n.320G>A | ||
| XM_011545850.2:c.15G>A | XP_011544152.1:p.Pro5= | |
| XM_011545851.2:c.230G>A | XP_011544153.1:p.Arg77His | |
| XM_017023216.1:c.230G>A | XP_016878705.1:p.Arg77His | |
| NM_000632.4:c.230G>A MANE Select | NP_000623.2:p.Arg77His | |
| NM_001145808.2:c.230G>A | NP_001139280.1:p.Arg77His |