COSMIC:
COSM3752846 (not active)
Revel Score:
ENST00000309539 (MANE Select)
0.035
ENST00000545927
0.035
ENST00000539518
0.035
ENST00000538745
0.035
ENST00000339968
0.035
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21350959 (AFR)
Genomes Max Group AF
0.21463945 (AFR)
Exomes Max Group AF
0.20954861 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10160849C>G , CM000674.2:g.10160849C>G | GRCh38 |
| NC_000012.11:g.10313448C>G , CM000674.1:g.10313448C>G | GRCh37 |
| NC_000012.10:g.10204715C>G | NCBI36 |
| NG_016743.1:g.16343G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309539.8:c.501G>C MANE Select | ENSP00000309124.3:p.Lys167Asn | |
| ENST00000309539.7:c.501G>C | ENSP00000309124.3:p.Lys167Asn | |
| ENST00000339968.6:c.189G>C | ENSP00000340572.6:p.Lys63Asn | |
| ENST00000432556.6:c.425-387G>C | ENSP00000405116.2:n.425-387G>C | |
| ENST00000538745.5:c.189G>C | ENSP00000438925.2:p.Lys63Asn | |
| ENST00000539518.5:c.342G>C | ENSP00000442389.1:p.Lys114Asn | |
| ENST00000543993.5:c.113-387G>C | ENSP00000445085.1:n.113-387G>C | |
| ENST00000544577.5:c.425-896G>C | ENSP00000444457.1:n.425-896G>C | |
| ENST00000545927.5:c.501G>C | ENSP00000439251.1:p.Lys167Asn | |
| NM_001172632.1:c.425-387G>C | NP_001166103.1:n.425-387G>C | |
| NM_001172633.1:c.501G>C | NP_001166104.1:p.Lys167Asn | |
| NM_002543.3:c.501G>C | NP_002534.1:p.Lys167Asn | |
| XM_011520682.1:c.501G>C | XP_011518984.1:p.Lys167Asn | |
| XM_011520683.1:c.501G>C | XP_011518985.1:p.Lys167Asn | |
| NM_002543.4:c.501G>C MANE Select | NP_002534.1:p.Lys167Asn | |
| NM_001172632.2:c.425-387G>C | NP_001166103.1:n.425-387G>C | |
| NM_001172633.2:c.501G>C | NP_001166104.1:p.Lys167Asn |