COSMIC:
COSM3746700 (not active)
COSM3746701 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80325213 (AFR)
Genomes Max Group AF
0.7960914 (AFR)
Exomes Max Group AF
0.8072043 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.184708330G>A , CM000663.2:g.184708330G>A | GRCh38 |
| NC_000001.10:g.184677464G>A , CM000663.1:g.184677464G>A | GRCh37 |
| NC_000001.9:g.182944087G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367512.8:c.1860C>T | ENSP00000356482.4:p.Ile620= | |
| ENST00000685249.1:c.1846-120C>T | ENSP00000508618.1:n.1846-120C>T | |
| ENST00000685596.1:c.1674C>T | ENSP00000510056.1:p.Ile558= | |
| ENST00000686047.1:c.1629C>T | ENSP00000508800.1:p.Ile543= | |
| ENST00000686225.1:c.1935C>T | ENSP00000509786.1:p.Ile645= | |
| ENST00000687113.1:c.1629C>T | ENSP00000509571.1:p.Ile543= | |
| ENST00000687397.1:n.1958C>T | ||
| ENST00000689766.1:n.2562C>T | ||
| ENST00000692170.1:c.1629C>T | ENSP00000508652.1:p.Ile543= | |
| ENST00000318130.13:c.1860C>T MANE Select | ENSP00000318147.7:p.Ile620= | |
| ENST00000318130.12:c.1860C>T | ENSP00000318147.7:p.Ile620= | |
| ENST00000367512.7:c.1731C>T | ENSP00000356482.3:p.Ile577= | |
| ENST00000439962.1:c.204C>T | ENSP00000390536.1:p.Ile68= | |
| ENST00000466392.1:n.77-120C>T | ||
| NM_025191.3:c.1860C>T | NP_079467.3:p.Ile620= | |
| XM_005245499.1:c.1863C>T | XP_005245556.1:p.Ile621= | |
| XM_011510010.1:c.1806C>T | XP_011508312.1:p.Ile602= | |
| XM_011510011.1:c.1803C>T | XP_011508313.1:p.Ile601= | |
| XM_011510012.1:c.1632C>T | XP_011508314.1:p.Ile544= | |
| XM_011510013.1:c.1863C>T | XP_011508315.1:p.Ile621= | |
| XM_011510014.1:c.1860C>T | XP_011508316.1:p.Ile620= | |
| NM_001319960.1:c.1860C>T | NP_001306889.1:p.Ile620= | |
| NR_135118.1:n.2121C>T | ||
| XM_005245499.2:c.1863C>T | XP_005245556.1:p.Ile621= | |
| XM_011510013.3:c.1863C>T | XP_011508315.1:p.Ile621= | |
| XM_011510014.3:c.1860C>T | XP_011508316.1:p.Ile620= | |
| XM_017002397.1:c.1629C>T | XP_016857886.1:p.Ile543= | |
| XM_017002398.1:c.1629C>T | XP_016857887.1:p.Ile543= | |
| NM_025191.4:c.1860C>T MANE Select | NP_079467.3:p.Ile620= | |
| NM_001319960.2:c.1860C>T | NP_001306889.1:p.Ile620= | |
| NR_135118.2:n.2072C>T |