Revel Score:
ENST00000307102 (MANE Select)
0.555
ENST00000425818
0.113
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66485025G>T , CM000677.2:g.66485025G>T | GRCh38 |
| NC_000015.9:g.66777363G>T , CM000677.1:g.66777363G>T | GRCh37 |
| NC_000015.8:g.64564417G>T | NCBI36 |
| NG_008305.1:g.103153G>T , LRG_725:g.103153G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.628-2203G>T | ENSP00000508681.1:n.628-2203G>T | |
| ENST00000685172.1:c.729G>T | ENSP00000509604.1:p.Gln243His | |
| ENST00000685763.1:c.582G>T | ENSP00000509016.1:p.Gln194His | |
| ENST00000686347.1:c.569-2203G>T | ENSP00000509027.1:n.569-2203G>T | |
| ENST00000687191.1:n.1087G>T | ||
| ENST00000687481.1:n.144G>T | ||
| ENST00000689951.1:c.780G>T | ENSP00000509308.1:p.Gln260His | |
| ENST00000691077.1:c.725G>T | ENSP00000509843.1:p.Ser242Ile | |
| ENST00000691576.1:c.600G>T | ENSP00000510066.1:p.Gln200His | |
| ENST00000691937.1:c.729G>T | ENSP00000508768.1:p.Gln243His | |
| ENST00000692487.1:c.725G>T | ENSP00000509534.1:p.Ser242Ile | |
| ENST00000692683.1:c.663G>T | ENSP00000508437.1:p.Gln221His | |
| ENST00000693150.1:c.585G>T | ENSP00000510309.1:p.Gln195His | |
| ENST00000307102.10:c.729G>T MANE Select | ENSP00000302486.5:p.Gln243His | |
| ENST00000307102.9:c.729G>T | ENSP00000302486.4:p.Gln243His | |
| ENST00000566326.1:c.201G>T | ENSP00000456438.1:p.Gln67His | |
| NM_002755.3:c.729G>T , LRG_725t1:c.729G>T | NP_002746.1:p.Gln243His | |
| XM_011521783.1:c.663G>T | XP_011520085.1:p.Gln221His | |
| XM_011521783.3:c.663G>T | XP_011520085.1:p.Gln221His | |
| XM_017022411.2:c.651G>T | XP_016877900.1:p.Gln217His | |
| XM_017022412.1:c.585G>T | XP_016877901.1:p.Gln195His | |
| XM_017022413.1:c.201G>T | XP_016877902.1:p.Gln67His | |
| NM_002755.4:c.729G>T MANE Select | NP_002746.1:p.Gln243His |