Revel Score:
ENST00000403312
0.513
ENST00000309522 (MANE Select)
0.513
ENST00000505878
0.513
ENST00000454409
0.513
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Genomes Max Group AF
0.00001919 (AFR)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.108019542A>G , CM000666.2:g.108019542A>G | GRCh38 |
| NC_000004.11:g.108940698A>G , CM000666.1:g.108940698A>G | GRCh37 |
| NC_000004.10:g.109160147A>G | NCBI36 |
| NG_008156.2:g.34759A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507260.3:n.508A>G | ||
| ENST00000626637.2:c.434A>G | ENSP00000486771.1:p.His145Arg | |
| ENST00000638648.2:c.434A>G | ENSP00000507949.1:p.His145Arg | |
| ENST00000640201.2:n.508A>G | ||
| ENST00000640752.2:n.508A>G | ||
| ENST00000682067.1:c.380-3932A>G | ||
| ENST00000682197.1:n.506A>G | ||
| ENST00000682373.1:c.206-3932A>G | ||
| ENST00000684696.1:c.422A>G | ENSP00000507675.1:p.His141Arg | |
| ENST00000309522.8:c.422A>G MANE Select | ENSP00000312288.4:p.His141Arg | |
| ENST00000403312.6:c.422A>G | ENSP00000385638.3:p.His141Arg | |
| ENST00000505878.4:c.599A>G | ENSP00000425952.2:p.His200Arg | |
| ENST00000507260.2:n.465A>G | ||
| ENST00000638559.1:c.280A>G | ||
| ENST00000638621.1:c.133-3932A>G | ENSP00000491581.1:n.133-3932A>G | |
| ENST00000638648.1:n.573A>G | ||
| ENST00000639146.1:c.422A>G | ENSP00000492345.1:p.His141Arg | |
| ENST00000639335.1:c.420-3932A>G | ENSP00000491310.1:n.420-3932A>G | |
| ENST00000639698.1:c.302A>G | ENSP00000492420.1:p.His101Arg | |
| ENST00000639784.1:c.284-3932A>G | ||
| ENST00000640048.1:c.260A>G | ENSP00000492009.1:p.His87Arg | |
| ENST00000640060.1:c.*517A>G | ENSP00000492734.1:n.*517A>G | |
| ENST00000640201.1:n.377A>G | ||
| ENST00000640586.1:c.711A>G | ||
| ENST00000640752.1:n.501A>G | ||
| ENST00000309522.7:c.422A>G | ENSP00000312288.3:p.His141Arg | |
| ENST00000403312.5:c.599A>G | ENSP00000385638.2:p.His200Arg | |
| ENST00000505878.3:c.434A>G | ENSP00000425952.1:p.His145Arg | |
| ENST00000507260.1:n.122A>G | ||
| ENST00000603302.5:c.422A>G | ENSP00000474560.1:p.His141Arg | |
| ENST00000626637.1:c.434A>G | ENSP00000486771.1:p.His145Arg | |
| NM_001184705.2:c.422A>G | NP_001171634.2:p.His141Arg | |
| NM_005327.4:c.422A>G | NP_005318.3:p.His141Arg | |
| XM_005262972.1:c.434A>G | XP_005263029.1:p.His145Arg | |
| XR_938726.1:n.571A>G | ||
| NM_001331027.1:c.434A>G | NP_001317956.1:p.His145Arg | |
| XR_001741214.2:n.516A>G | ||
| XR_002959727.1:n.516A>G | ||
| NM_001184705.3:c.422A>G | NP_001171634.2:p.His141Arg | |
| NM_005327.7:c.422A>G MANE Select | NP_005318.6:p.His141Arg | |
| NM_001184705.4:c.422A>G | NP_001171634.3:p.His141Arg | |
| NM_001331027.2:c.434A>G | NP_001317956.2:p.His145Arg |