COSMIC:
COSM4984900 (not active)
Revel Score:
ENST00000315251 (MANE Select)
0.095
ENST00000481668
0.095
ENST00000467802
0.095
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38773946 (EAS)
Genomes Max Group AF
0.3446078 (EAS)
Exomes Max Group AF
0.39204576 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53823890T>G , CM000665.2:g.53823890T>G | GRCh38 |
| NC_000003.11:g.53857917T>G , CM000665.1:g.53857917T>G | GRCh37 |
| NC_000003.10:g.53832957T>G | NCBI36 |
| NG_028042.1:g.27504A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315251.11:c.119A>C MANE Select | ENSP00000319851.5:p.Glu40Ala | |
| ENST00000315251.10:c.119A>C | ENSP00000319851.5:p.Glu40Ala | |
| ENST00000467802.1:c.119A>C | ENSP00000419863.1:p.Glu40Ala | |
| ENST00000481668.5:c.119A>C | ENSP00000418273.1:p.Glu40Ala | |
| NM_018397.4:c.119A>C | NP_060867.2:p.Glu40Ala | |
| XM_006713250.2:c.119A>C | XP_006713313.1:p.Glu40Ala | |
| XM_006713251.2:c.119A>C | XP_006713314.1:p.Glu40Ala | |
| XM_006713252.2:c.119A>C | XP_006713315.1:p.Glu40Ala | |
| XM_011533938.1:c.119A>C | XP_011532240.1:p.Glu40Ala | |
| XM_011533939.1:c.119A>C | XP_011532241.1:p.Glu40Ala | |
| XM_006713250.4:c.119A>C | XP_006713313.1:p.Glu40Ala | |
| XM_006713251.4:c.119A>C | XP_006713314.1:p.Glu40Ala | |
| XM_006713252.4:c.119A>C | XP_006713315.1:p.Glu40Ala | |
| XM_011533938.3:c.119A>C | XP_011532240.1:p.Glu40Ala | |
| XM_011533939.3:c.119A>C | XP_011532241.1:p.Glu40Ala | |
| XM_017006797.2:c.119A>C | XP_016862286.1:p.Glu40Ala | |
| XM_017006798.2:c.119A>C | XP_016862287.1:p.Glu40Ala | |
| XM_017006799.2:c.119A>C | XP_016862288.1:p.Glu40Ala | |
| XR_001740199.2:n.631A>C | ||
| XR_002959545.1:n.631A>C | ||
| NM_018397.5:c.119A>C MANE Select | NP_060867.2:p.Glu40Ala |