Revel Score:
ENST00000376634
0.024
ENST00000376636
0.024
ENST00000360280 (MANE Select)
0.024
ENST00000357409
0.024
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000783 (AFR)
Genomes Max Group AF
0.00064316 (AFR)
Exomes Max Group AF
0.00080214 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77365473A>G , CM000671.2:g.77365473A>G | GRCh38 |
| NC_000009.11:g.79980389A>G , CM000671.1:g.79980389A>G | GRCh37 |
| NC_000009.10:g.79170209A>G | NCBI36 |
| NG_008931.1:g.193029A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360280.8:c.8225A>G MANE Select | ENSP00000353422.3:p.His2742Arg | |
| ENST00000643348.1:c.8225A>G | ENSP00000493592.1:p.His2742Arg | |
| ENST00000645632.1:c.8225A>G | ENSP00000496361.1:p.His2742Arg | |
| ENST00000357409.9:c.8225A>G | ENSP00000349985.5:p.His2742Arg | |
| ENST00000360280.7:c.8225A>G | ENSP00000353422.3:p.His2742Arg | |
| ENST00000376634.8:c.8225A>G | ENSP00000365821.4:p.His2742Arg | |
| ENST00000376636.7:c.8108A>G | ENSP00000365823.3:p.His2703Arg | |
| NM_001018037.1:c.8108A>G | NP_001018047.1:p.His2703Arg | |
| NM_001018038.2:c.8225A>G | NP_001018048.1:p.His2742Arg | |
| NM_015186.3:c.8225A>G | NP_056001.1:p.His2742Arg | |
| NM_033305.2:c.8225A>G | NP_150648.2:p.His2742Arg | |
| XR_242579.2:n.8577A>G | ||
| XR_242580.3:n.8577A>G | ||
| XR_929740.1:n.8577A>G | ||
| XR_001746259.1:n.8577A>G | ||
| XR_001746260.1:n.8577A>G | ||
| NM_033305.3:c.8225A>G MANE Select | NP_150648.2:p.His2742Arg | |
| NM_001018037.2:c.8108A>G | NP_001018047.1:p.His2703Arg | |
| NM_001018038.3:c.8225A>G | NP_001018048.1:p.His2742Arg | |
| NM_015186.4:c.8225A>G | NP_056001.1:p.His2742Arg |