COSMIC:
COSM5019955 (not active)
Revel Score:
ENST00000270279
0.189
ENST00000341505
0.189
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04218715 (AFR)
Genomes Max Group AF
0.04024162 (AFR)
Exomes Max Group AF
0.04346053 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44793549C>T , CM000681.2:g.44793549C>T | GRCh38 |
| NC_000019.9:g.45296806C>T , CM000681.1:g.45296806C>T | GRCh37 |
| NC_000019.8:g.49988646C>T | NCBI36 |
| NG_054718.1:g.20695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647358.2:c.1213C>T MANE Select | ENSP00000494162.1:p.His405Tyr | |
| ENST00000270279.7:c.1213C>T | ENSP00000270279.3:p.His405Tyr | |
| ENST00000341505.4:c.1075C>T | ENSP00000340250.4:p.His359Tyr | |
| NM_001130852.1:c.1075C>T | NP_001124324.1:p.His359Tyr | |
| NM_012116.3:c.1213C>T | NP_036248.3:p.His405Tyr | |
| XM_005258696.2:c.1213C>T | XP_005258753.1:p.His405Tyr | |
| XM_011526688.1:c.1213C>T | XP_011524990.1:p.His405Tyr | |
| XM_011526689.1:c.1075C>T | XP_011524991.1:p.His359Tyr | |
| XR_935783.1:n.1160C>T | ||
| NM_012116.4:c.1213C>T MANE Select | NP_036248.3:p.His405Tyr | |
| XM_005258696.3:c.1213C>T | XP_005258753.1:p.His405Tyr | |
| XM_011526688.2:c.1213C>T | XP_011524990.1:p.His405Tyr | |
| XM_011526689.2:c.1075C>T | XP_011524991.1:p.His359Tyr | |
| XR_935783.2:n.1165C>T |