COSMIC:
COSM5425598 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47771422 (AFR)
Genomes Max Group AF
0.46564496 (AFR)
Exomes Max Group AF
0.48885784 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.170788634T>C , CM000667.2:g.170788634T>C | GRCh38 |
| NC_000005.9:g.170215638T>C , CM000667.1:g.170215638T>C | GRCh37 |
| NC_000005.8:g.170148216T>C | NCBI36 |
| NG_052803.1:g.9916T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265294.9:c.19T>C MANE Select | ENSP00000265294.4:p.Leu7= | |
| ENST00000265294.8:c.19T>C | ENSP00000265294.4:p.Leu7= | |
| ENST00000518122.5:c.19T>C | ENSP00000429815.1:p.Leu7= | |
| ENST00000518525.5:c.19T>C | ENSP00000430100.1:p.Leu7= | |
| ENST00000519196.5:c.19T>C | ENSP00000429668.1:p.Leu7= | |
| ENST00000519385.5:c.19T>C | ENSP00000430727.1:p.Leu7= | |
| ENST00000519598.1:c.19T>C | ENSP00000430772.1:p.Leu7= | |
| ENST00000521009.5:c.19T>C | ENSP00000428103.1:p.Leu7= | |
| ENST00000521481.5:c.19T>C | ENSP00000428804.1:p.Leu7= | |
| ENST00000522868.5:c.19T>C | ENSP00000430188.1:p.Leu7= | |
| NM_001291985.1:c.19T>C | NP_001278914.1:p.Leu7= | |
| NM_014211.2:c.19T>C | NP_055026.1:p.Leu7= | |
| XM_005265872.2:c.-100T>C | XP_005265929.1:n.-100T>C | |
| XM_011534502.1:c.19T>C | XP_011532804.1:p.Leu7= | |
| XM_011534503.1:c.19T>C | XP_011532805.1:p.Leu7= | |
| XM_011534504.1:c.19T>C | XP_011532806.1:p.Leu7= | |
| XM_011534505.1:c.19T>C | XP_011532807.1:p.Leu7= | |
| XM_011534506.1:c.19T>C | XP_011532808.1:p.Leu7= | |
| XM_024446012.1:c.19T>C | XP_024301780.1:p.Leu7= | |
| NM_014211.3:c.19T>C MANE Select | NP_055026.1:p.Leu7= | |
| NM_001291985.2:c.19T>C | NP_001278914.1:p.Leu7= |