COSMIC:
COSM1579769 (not active)
Revel Score:
ENST00000256999 (MANE Select)
0.099
ENST00000356696
0.099
ENST00000340334
0.099
ENST00000343844
0.099
ENST00000533034
0.099
ENST00000389724
0.099
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05063343 (NFE)
Genomes Max Group AF
0.04995032 (NFE)
Exomes Max Group AF
0.05059863 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.49164722G>A , CM000673.2:g.49164722G>A | GRCh38 |
| NC_000011.9:g.49186274G>A , CM000673.1:g.49186274G>A | GRCh37 |
| NC_000011.8:g.49142850G>A | NCBI36 |
| NG_029170.1:g.48949C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256999.7:c.1423C>T MANE Select | ENSP00000256999.2:p.His475Tyr | |
| ENST00000256999.6:c.1423C>T | ENSP00000256999.2:p.His475Tyr | |
| ENST00000340334.11:c.1378C>T | ENSP00000344131.7:p.His460Tyr | |
| ENST00000343844.8:c.499C>T | ENSP00000344086.4:p.His167Tyr | |
| ENST00000356696.7:c.1423C>T | ENSP00000349129.3:p.His475Tyr | |
| ENST00000458311.6:n.1025C>T | ||
| ENST00000525629.1:n.506C>T | ||
| ENST00000525826.5:c.*824C>T | ENSP00000434928.1:n.*824C>T | |
| ENST00000533034.1:c.1378C>T | ENSP00000431463.1:p.His460Tyr | |
| NM_001014986.1:c.1423C>T | NP_001014986.1:p.His475Tyr | |
| NM_001193471.1:c.1378C>T | NP_001180400.1:p.His460Tyr | |
| NM_001193472.1:c.1378C>T | NP_001180401.1:p.His460Tyr | |
| NM_001193473.1:c.499C>T | NP_001180402.1:p.His167Tyr | |
| NM_004476.1:c.1423C>T | NP_004467.1:p.His475Tyr | |
| XM_011519958.1:c.1378C>T | XP_011518260.1:p.His460Tyr | |
| NM_001014986.2:c.1423C>T | NP_001014986.1:p.His475Tyr | |
| NM_001193471.2:c.1378C>T | NP_001180400.1:p.His460Tyr | |
| NM_001193472.2:c.1378C>T | NP_001180401.1:p.His460Tyr | |
| NM_001193473.2:c.499C>T | NP_001180402.1:p.His167Tyr | |
| NM_001351236.1:c.1252C>T | NP_001338165.1:p.His418Tyr | |
| NM_004476.2:c.1423C>T | NP_004467.1:p.His475Tyr | |
| XM_011519958.3:c.1588C>T | XP_011518260.2:p.His530Tyr | |
| XM_017017432.1:c.1588C>T | XP_016872921.1:p.His530Tyr | |
| XM_017017433.2:c.1588C>T | XP_016872922.1:p.His530Tyr | |
| XM_017017434.1:c.1378C>T | XP_016872923.1:p.His460Tyr | |
| XM_017017435.2:c.1378C>T | XP_016872924.1:p.His460Tyr | |
| XM_017017444.2:c.499C>T | XP_016872933.1:p.His167Tyr | |
| XM_017017445.1:c.499C>T | XP_016872934.1:p.His167Tyr | |
| XM_017017446.1:c.499C>T | XP_016872935.1:p.His167Tyr | |
| XM_017017447.1:c.499C>T | XP_016872936.1:p.His167Tyr | |
| XM_017017448.1:c.499C>T | XP_016872937.1:p.His167Tyr | |
| XM_017017449.2:c.499C>T | XP_016872938.1:p.His167Tyr | |
| XM_017017450.2:c.499C>T | XP_016872939.1:p.His167Tyr | |
| XM_017017451.2:c.499C>T | XP_016872940.1:p.His167Tyr | |
| XM_024448411.1:c.499C>T | XP_024304179.1:p.His167Tyr | |
| XR_001747818.1:n.1818C>T | ||
| XR_001747819.1:n.1650C>T | ||
| NM_004476.3:c.1423C>T MANE Select | NP_004467.1:p.His475Tyr | |
| NM_001014986.3:c.1423C>T | NP_001014986.1:p.His475Tyr | |
| NM_001193471.3:c.1378C>T | NP_001180400.1:p.His460Tyr | |
| NM_001193472.3:c.1378C>T | NP_001180401.1:p.His460Tyr | |
| NM_001193473.3:c.499C>T | NP_001180402.1:p.His167Tyr | |
| NM_001351236.2:c.1252C>T | NP_001338165.1:p.His418Tyr |