Revel Score:
ENST00000359636
0.257
ENST00000543262 (MANE Select)
0.257
ENST00000393324
0.257
ENST00000524826
0.257
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86450356C>T , CM000673.2:g.86450356C>T | GRCh38 |
| NC_000011.9:g.86161398C>T , CM000673.1:g.86161398C>T | GRCh37 |
| NC_000011.8:g.85839046C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524826.8:c.962G>A | ENSP00000431182.2:p.Arg321Gln | |
| ENST00000543262.6:c.962G>A MANE Select | ENSP00000440246.1:p.Arg321Gln | |
| ENST00000524826.7:c.962G>A | ENSP00000431182.2:p.Arg321Gln | |
| ENST00000393324.7:c.962G>A | ENSP00000376998.2:p.Arg321Gln | |
| ENST00000524826.5:c.962G>A | ENSP00000431182.1:p.Arg321Gln | |
| ENST00000526504.5:c.*327G>A | ENSP00000433636.1:n.*327G>A | |
| ENST00000530520.5:n.983G>A | ||
| ENST00000543262.5:c.962G>A | ENSP00000440246.1:p.Arg321Gln | |
| NM_001014811.1:c.962G>A | NP_001014811.1:p.Arg321Gln | |
| NM_001161586.1:c.962G>A | NP_001155058.1:p.Arg321Gln | |
| NM_006680.2:c.962G>A | NP_006671.2:p.Arg321Gln | |
| XM_005273717.1:c.962G>A | XP_005273774.1:p.Arg321Gln | |
| XM_011544737.1:c.359G>A | XP_011543039.1:p.Arg120Gln | |
| XR_949760.1:n.1124G>A | ||
| XR_949762.1:n.1678G>A | ||
| XR_949766.1:n.1082-2101G>A | ||
| NM_001351934.1:c.962G>A | NP_001338863.1:p.Arg321Gln | |
| NR_147828.1:n.1289G>A | ||
| NR_147829.1:n.1709G>A | ||
| NR_147830.1:n.1641-354G>A | ||
| NR_147831.1:n.1669-354G>A | ||
| XM_017017136.1:c.1322G>A | XP_016872625.1:p.Arg441Gln | |
| XM_017017137.1:c.551G>A | XP_016872626.1:p.Arg184Gln | |
| XM_017017138.1:c.359G>A | XP_016872627.1:p.Arg120Gln | |
| XR_001747736.2:n.3789G>A | ||
| XR_001747737.2:n.3789G>A | ||
| XR_001747738.2:n.3789G>A | ||
| XR_001747739.2:n.3877G>A | ||
| XR_001747740.1:n.3989G>A | ||
| XR_001747741.2:n.3904G>A | ||
| XR_001747742.2:n.2973-2101G>A | ||
| XR_001747743.2:n.3831G>A | ||
| XR_001747744.2:n.3831G>A | ||
| XR_001747745.1:n.1559G>A | ||
| XR_001747746.1:n.1594G>A | ||
| XR_001747747.2:n.3816G>A | ||
| XR_001747749.2:n.4016G>A | ||
| XR_949760.2:n.2060G>A | ||
| XR_949766.3:n.3352-2101G>A | ||
| NM_001014811.2:c.962G>A | NP_001014811.1:p.Arg321Gln | |
| NM_001161586.2:c.962G>A | NP_001155058.1:p.Arg321Gln | |
| NM_001351934.2:c.962G>A | NP_001338863.1:p.Arg321Gln | |
| NM_006680.3:c.962G>A | NP_006671.2:p.Arg321Gln | |
| NR_147828.2:n.1080G>A | ||
| NR_147829.2:n.1500G>A | ||
| NR_147830.2:n.1432-354G>A | ||
| NR_147831.2:n.1646-354G>A | ||
| NM_001161586.3:c.962G>A MANE Select | NP_001155058.1:p.Arg321Gln | |
| NM_001395868.1:c.962G>A | NP_001382797.1:p.Arg321Gln | |
| NR_172888.1:n.1269G>A | ||
| NR_172889.1:n.1193G>A |