Revel Score:
ENST00000373203 (MANE Select)
0.247
ENST00000344849
0.247
ENST00000545345
0.247
ENST00000546301
0.247
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08265409 (EAS)
Genomes Max Group AF
0.09289246 (EAS)
Exomes Max Group AF
0.08058298 (EAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127824342C>G , CM000671.2:g.127824342C>G | GRCh38 |
| NC_000009.11:g.130586621C>G , CM000671.1:g.130586621C>G | GRCh37 |
| NC_000009.10:g.129626442C>G | NCBI36 |
| NG_009551.1:g.35427G>C , LRG_589:g.35427G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.550G>C | ENSP00000479015.1:p.Asp184His | |
| ENST00000373203.9:c.1096G>C MANE Select | ENSP00000362299.4:p.Asp366His | |
| ENST00000344849.4:c.1096G>C | ENSP00000341917.3:p.Asp366His | |
| ENST00000373203.8:c.1096G>C | ENSP00000362299.4:p.Asp366His | |
| ENST00000480266.5:c.550G>C | ENSP00000479015.1:p.Asp184His | |
| ENST00000486329.1:n.64G>C | ||
| NM_000118.3:c.1096G>C , LRG_589t1:c.1096G>C | NP_000109.1:p.Asp366His | |
| NM_001114753.2:c.1096G>C , LRG_589t2:c.1096G>C | NP_001108225.1:p.Asp366His | |
| NM_001278138.1:c.550G>C | NP_001265067.1:p.Asp184His | |
| NM_001114753.3:c.1096G>C MANE Select | NP_001108225.1:p.Asp366His | |
| NM_001278138.2:c.550G>C | NP_001265067.1:p.Asp184His |