COSMIC:
COSM4157220 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38632631 (AFR)
Genomes Max Group AF
0.38372092 (AFR)
Exomes Max Group AF
0.38611021 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.126137852C>A , CM000665.2:g.126137852C>A | GRCh38 |
| NC_000003.11:g.125856695C>A , CM000665.1:g.125856695C>A | GRCh37 |
| NC_000003.10:g.127339385C>A | NCBI36 |
| NG_012260.1:g.47791G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393434.7:c.1185G>T MANE Select | ENSP00000377083.3:p.Leu395= | |
| ENST00000273450.7:c.1215G>T | ENSP00000273450.3:p.Leu405= | |
| ENST00000393431.6:c.1185G>T | ENSP00000377081.2:p.Leu395= | |
| ENST00000393434.6:c.1185G>T | ENSP00000377083.2:p.Leu395= | |
| ENST00000452905.6:c.882G>T | ENSP00000395881.2:p.Leu294= | |
| ENST00000455064.6:c.1185G>T | ENSP00000414126.3:p.Leu395= | |
| ENST00000472186.5:c.1185G>T | ENSP00000420293.1:p.Leu395= | |
| ENST00000473607.5:c.*1225G>T | ENSP00000419448.1:n.*1225G>T | |
| ENST00000476245.5:n.2262G>T | ||
| NM_001270364.1:c.1215G>T | NP_001257293.1:p.Leu405= | |
| NM_001270365.1:c.882G>T | NP_001257294.1:p.Leu294= | |
| NM_012190.3:c.1185G>T | NP_036322.2:p.Leu395= | |
| NR_072979.1:n.1535G>T | ||
| XM_006713481.2:c.1185G>T | XP_006713544.1:p.Leu395= | |
| XM_011512355.1:c.1185G>T | XP_011510657.1:p.Leu395= | |
| XM_011512356.1:c.1077G>T | XP_011510658.1:p.Leu359= | |
| XM_006713481.3:c.1185G>T | XP_006713544.1:p.Leu395= | |
| XM_017005613.2:c.1215G>T | XP_016861102.1:p.Leu405= | |
| XM_017005614.2:c.1185G>T | XP_016861103.1:p.Leu395= | |
| XM_024453325.1:c.1185G>T | XP_024309093.1:p.Leu395= | |
| NM_001270365.2:c.882G>T | NP_001257294.1:p.Leu294= | |
| NM_012190.4:c.1185G>T MANE Select | NP_036322.2:p.Leu395= | |
| NR_072979.2:n.1319G>T | ||
| NM_001270364.2:c.1215G>T | NP_001257293.1:p.Leu405= |