ClinGen Evidence Repository:
Classification
Pathogenic
Revel Score:
ENST00000373203 (MANE Select)
0.579
ENST00000344849
0.579
ENST00000545345
0.579
ENST00000546301
0.579
gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127818220C>T , CM000671.2:g.127818220C>T | GRCh38 |
| NC_000009.11:g.130580499C>T , CM000671.1:g.130580499C>T | GRCh37 |
| NC_000009.10:g.129620320C>T | NCBI36 |
| NG_009551.1:g.41549G>A , LRG_589:g.41549G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.1040G>A | ENSP00000479015.1:p.Arg347His | |
| ENST00000373203.9:c.1586G>A MANE Select | ENSP00000362299.4:p.Arg529His | |
| ENST00000344849.4:c.1586G>A | ENSP00000341917.3:p.Arg529His | |
| ENST00000373203.8:c.1586G>A | ENSP00000362299.4:p.Arg529His | |
| ENST00000480266.5:c.1040G>A | ENSP00000479015.1:p.Arg347His | |
| NM_000118.3:c.1586G>A , LRG_589t1:c.1586G>A | NP_000109.1:p.Arg529His | |
| NM_001114753.2:c.1586G>A , LRG_589t2:c.1586G>A | NP_001108225.1:p.Arg529His | |
| NM_001278138.1:c.1040G>A | NP_001265067.1:p.Arg347His | |
| NR_136302.1:n.1378-91C>T | ||
| NM_001114753.3:c.1586G>A MANE Select | NP_001108225.1:p.Arg529His | |
| NM_001278138.2:c.1040G>A | NP_001265067.1:p.Arg347His |