Revel Score:
ENST00000219368 (MANE Select)
0.904
ENST00000544337
0.904
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74719083A>G , CM000678.2:g.74719083A>G | GRCh38 |
| NC_000016.9:g.74752981A>G , CM000678.1:g.74752981A>G | GRCh37 |
| NC_000016.8:g.73310482A>G | NCBI36 |
| NG_017070.1:g.60749T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.691T>C MANE Select | ENSP00000219368.3:p.Tyr231His | |
| ENST00000219368.7:c.691T>C | ENSP00000219368.3:p.Tyr231His | |
| ENST00000567683.5:c.441T>C | ENSP00000455126.1:p.Ser147= | |
| ENST00000569949.1:c.493T>C | ENSP00000464576.1:p.Tyr165His | |
| NM_024306.4:c.691T>C | NP_077282.3:p.Tyr231His | |
| XM_011523317.1:c.691T>C | XP_011521619.1:p.Tyr231His | |
| XM_011523318.1:c.691T>C | XP_011521620.1:p.Tyr231His | |
| XM_011523319.1:c.451T>C | XP_011521621.1:p.Tyr151His | |
| XM_011523317.3:c.691T>C | XP_011521619.1:p.Tyr231His | |
| XM_011523319.2:c.451T>C | XP_011521621.1:p.Tyr151His | |
| NM_024306.5:c.691T>C MANE Select | NP_077282.3:p.Tyr231His |