COSMIC:
COSM4001571 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21338236 (AMR)
Genomes Max Group AF
0.20054963 (EAS)
Exomes Max Group AF
0.22501627 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233945906G>C , CM000664.2:g.233945906G>C | GRCh38 |
| NC_000002.11:g.234854550G>C , CM000664.1:g.234854550G>C | GRCh37 |
| NC_000002.10:g.234519289G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324695.9:c.750G>C MANE Select | ENSP00000323926.4:p.Leu250= | |
| ENST00000324695.8:c.750G>C | ENSP00000323926.4:p.Leu250= | |
| ENST00000433712.6:c.27G>C | ENSP00000404423.3:p.Leu9= | |
| ENST00000444298.5:c.750G>C | ENSP00000396745.1:p.Leu250= | |
| NM_024080.4:c.750G>C | NP_076985.4:p.Leu250= | |
| XM_011511810.1:c.750G>C | XP_011510112.1:p.Leu250= | |
| XM_011511810.2:c.750G>C | XP_011510112.1:p.Leu250= | |
| XM_017004891.1:c.519G>C | XP_016860380.1:p.Leu173= | |
| XM_024453132.1:c.519G>C | XP_024308900.1:p.Leu173= | |
| NM_024080.5:c.750G>C MANE Select | NP_076985.4:p.Leu250= | |
| NM_001397606.1:c.750G>C | NP_001384535.1:p.Leu250= | |
| NM_001397607.1:c.600G>C | NP_001384536.1:p.Leu200= | |
| NM_001397608.1:c.750G>C | NP_001384537.1:p.Leu250= | |
| NM_001397609.1:c.519G>C | NP_001384538.1:p.Leu173= | |
| NM_001397610.1:c.519G>C | NP_001384539.1:p.Leu173= | |
| NM_001397611.1:c.519G>C | NP_001384540.1:p.Leu173= | |
| NM_001397612.1:c.519G>C | NP_001384541.1:p.Leu173= | |
| NM_001397613.1:c.519G>C | NP_001384542.1:p.Leu173= | |
| NM_001397615.1:c.-311-1182G>C | NP_001384544.1:n.-311-1182G>C | |
| NM_001397635.1:c.29-1182G>C | NP_001384564.1:n.29-1182G>C |