COSMIC:
COSM1364054 (not active)
Revel Score:
ENST00000393330
0.666
ENST00000247829 (MANE Select)
0.666
ENST00000546561
0.666
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40825334 (NFE)
Genomes Max Group AF
0.40443945 (NFE)
Exomes Max Group AF
0.40827109 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71139754C>G , CM000674.2:g.71139754C>G | GRCh38 |
| NC_000012.11:g.71533534C>G , CM000674.1:g.71533534C>G | GRCh37 |
| NC_000012.10:g.69819801C>G | NCBI36 |
| NG_046933.1:g.23246G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247829.8:c.218G>C MANE Select | ENSP00000247829.3:p.Gly73Ala | |
| ENST00000247829.7:c.218G>C | ENSP00000247829.3:p.Gly73Ala | |
| ENST00000393330.6:c.218G>C | ENSP00000377003.2:p.Gly73Ala | |
| ENST00000546561.2:c.218G>C | ENSP00000447160.1:p.Gly73Ala | |
| NM_004616.2:c.218G>C | NP_004607.1:p.Gly73Ala | |
| XM_006719583.2:c.218G>C | XP_006719646.1:p.Gly73Ala | |
| XM_006719583.3:c.218G>C | XP_006719646.1:p.Gly73Ala | |
| XM_017019913.2:c.218G>C | XP_016875402.1:p.Gly73Ala | |
| NM_004616.3:c.218G>C MANE Select | NP_004607.1:p.Gly73Ala | |
| NM_001369760.1:c.218G>C | NP_001356689.1:p.Gly73Ala |