COSMIC:
COSM5983431 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39390243 (MID)
Genomes Max Group AF
0.3470949 (AMR)
Exomes Max Group AF
0.39096843 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36114157G>A , CM000680.2:g.36114157G>A | GRCh38 |
| NC_000018.9:g.33694120G>A , CM000680.1:g.33694120G>A | GRCh37 |
| NC_000018.8:g.31948118G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269187.10:c.1783C>T MANE Select | ENSP00000269187.4:p.Leu595= | |
| ENST00000269187.9:c.1783C>T | ENSP00000269187.4:p.Leu595= | |
| ENST00000440549.6:c.958C>T | ENSP00000401139.1:p.Leu320= | |
| ENST00000586829.1:c.484C>T | ENSP00000467724.1:p.Leu162= | |
| ENST00000590986.5:c.1783C>T | ENSP00000465915.1:p.Leu595= | |
| NM_001099406.1:c.958C>T | NP_001092876.1:p.Leu320= | |
| NM_012319.3:c.1783C>T | NP_036451.3:p.Leu595= | |
| XM_011525900.1:c.1783C>T | XP_011524202.1:p.Leu595= | |
| XM_011525901.1:c.1783C>T | XP_011524203.1:p.Leu595= | |
| XM_011525900.2:c.1783C>T | XP_011524202.1:p.Leu595= | |
| XM_011525901.2:c.1783C>T | XP_011524203.1:p.Leu595= | |
| NM_012319.4:c.1783C>T MANE Select | NP_036451.4:p.Leu595= | |
| NM_001099406.2:c.958C>T | NP_001092876.1:p.Leu320= |