Revel Score:
ENST00000263642
0.150
ENST00000543192
0.150
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001066 (AFR)
Exomes Max Group AF
0.00000992 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162281473T>A , CM000664.2:g.162281473T>A | GRCh38 |
| NC_000002.11:g.163137983T>A , CM000664.1:g.163137983T>A | GRCh37 |
| NC_000002.10:g.162846229T>A | NCBI36 |
| NG_011495.1:g.42057A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*976A>T | ENSP00000513228.1:n.*976A>T | |
| ENST00000648433.1:c.1379A>T | ENSP00000496816.1:p.His460Leu | |
| ENST00000649554.1:n.989A>T | ||
| ENST00000649979.2:c.1379A>T MANE Select | ENSP00000497271.1:p.His460Leu | |
| ENST00000679938.1:c.1067A>T | ENSP00000505518.1:p.His356Leu | |
| ENST00000263642.2:c.1379A>T | ENSP00000263642.2:p.His460Leu | |
| NM_022168.3:c.1379A>T | NP_071451.2:p.His460Leu | |
| XM_011511628.1:c.662A>T | XP_011509930.1:p.His221Leu | |
| XM_011511629.1:c.1379A>T | XP_011509931.1:p.His460Leu | |
| NM_022168.4:c.1379A>T MANE Select | NP_071451.2:p.His460Leu |