COSMIC:
COSM3753710 (not active)
COSM5827398 (not active)
Revel Score:
ENST00000378688
0.074
ENST00000543956
0.074
ENST00000542664 (MANE Select)
0.074
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12543513 (AFR)
Genomes Max Group AF
0.12202211 (AFR)
Exomes Max Group AF
0.1277028 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46834899G>A , CM000675.2:g.46834899G>A | GRCh38 |
| NC_000013.10:g.47409034G>A , CM000675.1:g.47409034G>A | GRCh37 |
| NC_000013.9:g.46307035G>A | NCBI36 |
| NG_013011.1:g.67136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.1354C>T MANE Select | ENSP00000437737.1:p.His452Tyr | |
| ENST00000543956.5:c.865C>T | ENSP00000441861.2:p.His289Tyr | |
| ENST00000378688.8:c.1354C>T | ENSP00000367959.3:p.His452Tyr | |
| ENST00000542664.3:c.1354C>T | ENSP00000437737.1:p.His452Tyr | |
| ENST00000543956.4:c.1102C>T | ENSP00000441861.1:p.His368Tyr | |
| NM_000621.4:c.1354C>T | NP_000612.1:p.His452Tyr | |
| NM_001165947.2:c.1102C>T | NP_001159419.1:p.His368Tyr | |
| NM_000621.5:c.1354C>T MANE Select | NP_000612.1:p.His452Tyr | |
| NM_001165947.5:c.865C>T | NP_001159419.2:p.His289Tyr | |
| NM_001378924.1:c.1354C>T | NP_001365853.1:p.His452Tyr |