COSMIC:
COSM4129115 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78230471 (AFR)
Genomes Max Group AF
0.77552922 (AFR)
Exomes Max Group AF
0.78579465 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53470809T>C , CM000678.2:g.53470809T>C | GRCh38 |
| NC_000016.9:g.53504721T>C , CM000678.1:g.53504721T>C | GRCh37 |
| NC_000016.8:g.52062222T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262133.11:c.2590T>C MANE Select | ENSP00000262133.6:p.Leu864= | |
| ENST00000680543.1:n.4381T>C | ||
| ENST00000262133.10:c.2590T>C | ENSP00000262133.6:p.Leu864= | |
| ENST00000379935.8:n.2289T>C | ||
| ENST00000544545.2:c.1720T>C | ENSP00000444685.2:p.Leu574= | |
| NM_005611.3:c.2590T>C | NP_005602.3:p.Leu864= | |
| XM_005256083.3:c.2368T>C | XP_005256140.1:p.Leu790= | |
| XM_011523252.1:c.2590T>C | XP_011521554.1:p.Leu864= | |
| XM_011523253.1:c.1942T>C | XP_011521555.1:p.Leu648= | |
| NM_001323608.1:c.2590T>C | NP_001310537.1:p.Leu864= | |
| NM_001323609.1:c.2590T>C | NP_001310538.1:p.Leu864= | |
| NM_001323610.1:c.2443T>C | NP_001310539.1:p.Leu815= | |
| NM_001323611.1:c.2368T>C | NP_001310540.1:p.Leu790= | |
| XM_011523253.2:c.1942T>C | XP_011521555.1:p.Leu648= | |
| XM_017023513.1:c.1942T>C | XP_016879002.1:p.Leu648= | |
| NM_005611.4:c.2590T>C MANE Select | NP_005602.3:p.Leu864= | |
| NM_001323608.2:c.2590T>C | NP_001310537.1:p.Leu864= | |
| NM_001323609.2:c.2590T>C | NP_001310538.1:p.Leu864= | |
| NM_001323610.2:c.2443T>C | NP_001310539.1:p.Leu815= |