COSMIC:
COSM3760083 (not active)
Revel Score:
ENST00000301831 (MANE Select)
0.092
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27465224 (MID)
Genomes Max Group AF
0.20131154 (AFR)
Exomes Max Group AF
0.27291934 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.41835922T>C , CM000665.2:g.41835922T>C | GRCh38 |
| NC_000003.11:g.41877414T>C , CM000665.1:g.41877414T>C | GRCh37 |
| NC_000003.10:g.41852418T>C | NCBI36 |
| NG_051047.1:g.132099A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301831.9:c.1706A>G MANE Select | ENSP00000301831.4:p.Lys569Arg | |
| ENST00000301831.8:c.1706A>G | ENSP00000301831.4:p.Lys569Arg | |
| ENST00000460406.1:n.187A>G | ||
| NM_017886.2:c.1706A>G | NP_060356.2:p.Lys569Arg | |
| XM_005265261.3:c.1703A>G | XP_005265318.1:p.Lys568Arg | |
| XM_006713215.2:c.1349A>G | XP_006713278.1:p.Lys450Arg | |
| XM_011533872.1:c.1706A>G | XP_011532174.1:p.Lys569Arg | |
| XM_011533873.1:c.1706A>G | XP_011532175.1:p.Lys569Arg | |
| XM_011533874.1:c.1706A>G | XP_011532176.1:p.Lys569Arg | |
| XM_011533875.1:c.1706A>G | XP_011532177.1:p.Lys569Arg | |
| XM_011533876.1:c.1706A>G | XP_011532178.1:p.Lys569Arg | |
| XM_011533877.1:c.917A>G | XP_011532179.1:p.Lys306Arg | |
| XM_011533878.1:c.1706A>G | XP_011532180.1:p.Lys569Arg | |
| XM_011533879.1:c.566A>G | XP_011532181.1:p.Lys189Arg | |
| XM_011533880.1:c.-122A>G | XP_011532182.1:n.-122A>G | |
| XR_427279.2:n.2623A>G | ||
| NM_001322500.1:c.1706A>G | NP_001309429.1:p.Lys569Arg | |
| NM_001322501.1:c.800A>G | NP_001309430.1:p.Lys267Arg | |
| NM_017886.3:c.1706A>G | NP_060356.2:p.Lys569Arg | |
| NR_136342.1:n.2109A>G | ||
| XM_011533880.3:c.-122A>G | XP_011532182.1:n.-122A>G | |
| XM_024453612.1:c.-80A>G | XP_024309380.1:n.-80A>G | |
| XM_024453613.1:c.-122A>G | XP_024309381.1:n.-122A>G | |
| NM_017886.4:c.1706A>G MANE Select | NP_060356.2:p.Lys569Arg | |
| NM_001322500.2:c.1706A>G | NP_001309429.1:p.Lys569Arg | |
| NM_001322501.2:c.800A>G | NP_001309430.1:p.Lys267Arg | |
| NR_136342.2:n.1772A>G |