Revel Score:
ENST00000371372 (MANE Select)
0.973
ENST00000277551
0.973
ENST00000277549
0.973
ENST00000371363
0.973
ENST00000371357
0.973
ENST00000371355
0.973
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00059403 (NFE)
Genomes Max Group AF
0.00058546 (NFE)
Exomes Max Group AF
0.00058639 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.138058108G>A , CM000671.2:g.138058108G>A | GRCh38 |
| NC_000009.11:g.140952560G>A , CM000671.1:g.140952560G>A | GRCh37 |
| NC_000009.10:g.140072381G>A | NCBI36 |
| NG_042271.1:g.185320G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371372.6:c.4166G>A MANE Select | ENSP00000360423.1:p.Arg1389His | |
| ENST00000277549.9:c.4166G>A | ENSP00000277549.6:p.Arg1389His | |
| ENST00000277551.6:c.4166G>A | ENSP00000277551.2:p.Arg1389His | |
| ENST00000371355.8:c.4169G>A | ENSP00000360406.4:p.Arg1390His | |
| ENST00000371357.5:c.4169G>A | ENSP00000360408.1:p.Arg1390His | |
| ENST00000371363.5:c.4166G>A | ENSP00000360414.1:p.Arg1389His | |
| ENST00000371372.5:c.4166G>A | ENSP00000360423.1:p.Arg1389His | |
| NM_000718.3:c.4166G>A | NP_000709.1:p.Arg1389His | |
| NM_001243812.1:c.4166G>A | NP_001230741.1:p.Arg1389His | |
| XM_011518990.1:c.4238G>A | XP_011517292.1:p.Arg1413His | |
| XM_011518991.1:c.4181G>A | XP_011517293.1:p.Arg1394His | |
| XM_011518992.1:c.4178G>A | XP_011517294.1:p.Arg1393His | |
| XM_011518993.1:c.4178G>A | XP_011517295.1:p.Arg1393His | |
| XM_011518994.1:c.4169G>A | XP_011517296.1:p.Arg1390His | |
| XM_011518995.1:c.4241G>A | XP_011517297.1:p.Arg1414His | |
| XM_011518996.1:c.830G>A | XP_011517298.1:p.Arg277His | |
| XM_011518997.1:c.4226G>A | XP_011517299.1:p.Arg1409His | |
| NM_000718.4:c.4166G>A MANE Select | NP_000709.1:p.Arg1389His | |
| NM_001243812.2:c.4166G>A | NP_001230741.1:p.Arg1389His |