Revel Score:
ENST00000318080 (MANE Select)
0.800
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00027656 (EAS)
Genomes Max Group AF
0.00006825 (EAS)
Exomes Max Group AF
0.00027264 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129100533C>T , CM000671.2:g.129100533C>T | GRCh38 |
| NC_000009.11:g.131862812C>T , CM000671.1:g.131862812C>T | GRCh37 |
| NC_000009.10:g.130902633C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318080.7:c.962G>A MANE Select | ENSP00000315013.2:p.Arg321His | |
| ENST00000455396.2:c.842G>A | ENSP00000395458.2:p.Arg281His | |
| ENST00000679520.1:c.*1014G>A | ENSP00000505259.1:n.*1014G>A | |
| ENST00000679716.1:n.2956G>A | ||
| ENST00000680093.1:c.*148G>A | ENSP00000506286.1:n.*148G>A | |
| ENST00000680117.1:c.962G>A | ENSP00000505542.1:p.Arg321His | |
| ENST00000680523.1:n.1244G>A | ||
| ENST00000681040.1:c.*938G>A | ENSP00000506678.1:n.*938G>A | |
| ENST00000681118.1:n.2428G>A | ||
| ENST00000681325.1:c.962G>A | ENSP00000506574.1:p.Arg321His | |
| ENST00000681622.1:c.*1218G>A | ENSP00000505897.1:n.*1218G>A | |
| ENST00000681627.1:c.962G>A | ENSP00000506267.1:p.Arg321His | |
| ENST00000681689.1:c.*938G>A | ENSP00000505435.1:n.*938G>A | |
| ENST00000681725.1:c.962G>A | ENSP00000505817.1:p.Arg321His | |
| ENST00000681911.1:c.*997G>A | ENSP00000506533.1:n.*997G>A | |
| ENST00000318080.6:c.962G>A | ENSP00000315013.2:p.Arg321His | |
| ENST00000458362.5:c.*938G>A | ENSP00000400367.1:n.*938G>A | |
| NM_000755.3:c.962G>A | NP_000746.2:p.Arg321His | |
| NM_001257363.1:c.899G>A | NP_001244292.1:p.Arg300His | |
| XM_005251706.2:c.965G>A | XP_005251763.1:p.Arg322His | |
| XM_005251708.2:c.899G>A | XP_005251765.1:p.Arg300His | |
| NM_000755.4:c.962G>A | NP_000746.2:p.Arg321His | |
| NM_001257363.2:c.899G>A | NP_001244292.1:p.Arg300His | |
| NM_001346546.1:c.965G>A | NP_001333475.1:p.Arg322His | |
| NM_001346547.1:c.962G>A | NP_001333476.1:p.Arg321His | |
| NM_001346548.1:c.899G>A | NP_001333477.1:p.Arg300His | |
| NM_001346549.1:c.842G>A | NP_001333478.1:p.Arg281His | |
| NM_004003.3:c.899G>A | NP_003994.2:p.Arg300His | |
| XM_005251708.4:c.899G>A | XP_005251765.1:p.Arg300His | |
| XM_017014275.1:c.965G>A | XP_016869764.1:p.Arg322His | |
| XM_024447414.1:c.950G>A | XP_024303182.1:p.Arg317His | |
| NM_000755.5:c.962G>A MANE Select | NP_000746.3:p.Arg321His | |
| NM_001257363.3:c.899G>A | NP_001244292.2:p.Arg300His | |
| NM_001346546.2:c.965G>A | NP_001333475.2:p.Arg322His | |
| NM_001346547.2:c.962G>A | NP_001333476.2:p.Arg321His | |
| NM_001346548.2:c.899G>A | NP_001333477.2:p.Arg300His | |
| NM_001346549.2:c.842G>A | NP_001333478.2:p.Arg281His | |
| NM_004003.4:c.899G>A | NP_003994.3:p.Arg300His |