Revel Score:
ENST00000399402
0.877
ENST00000307363 (MANE Select)
0.877
ENST00000445488
0.877
ENST00000307377
0.877
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32997308A>G , CM000665.2:g.32997308A>G | GRCh38 |
| NC_000003.11:g.33038800A>G , CM000665.1:g.33038800A>G | GRCh37 |
| NC_000003.10:g.33013804A>G | NCBI36 |
| NG_009005.1:g.104895T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1771T>C MANE Select | ENSP00000306920.4:p.Tyr591His | |
| ENST00000307363.9:c.1771T>C | ENSP00000306920.4:p.Tyr591His | |
| ENST00000307377.12:c.1378T>C | ENSP00000305920.8:p.Tyr460His | |
| ENST00000399402.7:c.1681T>C | ENSP00000382333.2:p.Tyr561His | |
| NM_000404.2:c.1771T>C | NP_000395.2:p.Tyr591His | |
| NM_000404.3:c.1771T>C | NP_000395.2:p.Tyr591His | |
| NM_001079811.1:c.1681T>C | NP_001073279.1:p.Tyr561His | |
| NM_001079811.2:c.1681T>C | NP_001073279.1:p.Tyr561His | |
| NM_001135602.1:c.1378T>C | NP_001129074.1:p.Tyr460His | |
| NM_001135602.2:c.1378T>C | NP_001129074.1:p.Tyr460His | |
| NM_001317040.1:c.1915T>C | NP_001303969.1:p.Tyr639His | |
| NM_000404.4:c.1771T>C MANE Select | NP_000395.3:p.Tyr591His | |
| NM_001079811.3:c.1681T>C | NP_001073279.2:p.Tyr561His | |
| NM_001135602.3:c.1378T>C | NP_001129074.2:p.Tyr460His | |
| NM_001317040.2:c.1915T>C | NP_001303969.2:p.Tyr639His | |
| NM_001393580.1:c.1734+16748T>C | NP_001380509.1:n.1734+16748T>C |