Revel Score:
ENST00000534884
0.162
ENST00000378677
0.162
ENST00000357033 (MANE Select)
0.162
ENST00000542849
0.162
ENST00000535280
0.162
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002734 (NFE)
Genomes Max Group AF
0.00001499 (NFE)
Exomes Max Group AF
0.00002638 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32438263C>T , CM000685.2:g.32438263C>T | GRCh38 |
| NC_000023.10:g.32456380C>T , CM000685.1:g.32456380C>T | GRCh37 |
| NC_000023.9:g.32366301C>T | NCBI36 |
| NG_012232.1:g.906347G>A , LRG_199:g.906347G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357033.9:c.4049G>A MANE Select | ENSP00000354923.3:p.Arg1350His | |
| ENST00000357033.8:c.4049G>A | ENSP00000354923.3:p.Arg1350His | |
| ENST00000378677.6:c.4037G>A | ENSP00000367948.2:p.Arg1346His | |
| ENST00000420596.5:c.94-73064G>A | ENSP00000399897.1:n.94-73064G>A | |
| ENST00000448370.5:c.94-73553G>A | ENSP00000388559.1:n.94-73553G>A | |
| ENST00000488902.5:n.336-221200G>A | ||
| ENST00000619831.4:c.4037G>A | ENSP00000479270.1:p.Arg1346His | |
| ENST00000620040.4:c.4049G>A | ENSP00000478150.1:p.Arg1350His | |
| NM_000109.3:c.4025G>A | NP_000100.2:p.Arg1342His | |
| NM_004006.2:c.4049G>A , LRG_199t1:c.4049G>A | NP_003997.1:p.Arg1350His | |
| NM_004009.3:c.4037G>A | NP_004000.1:p.Arg1346His | |
| NM_004010.3:c.3680G>A | NP_004001.1:p.Arg1227His | |
| XM_006724468.2:c.4049G>A | XP_006724531.1:p.Arg1350His | |
| XM_006724469.2:c.4025G>A | XP_006724532.1:p.Arg1342His | |
| XM_006724470.2:c.4049G>A | XP_006724533.1:p.Arg1350His | |
| XM_006724471.2:c.4049G>A | XP_006724534.1:p.Arg1350His | |
| XM_006724472.2:c.3920G>A | XP_006724535.1:p.Arg1307His | |
| XM_006724473.2:c.4049G>A | XP_006724536.1:p.Arg1350His | |
| XM_006724474.2:c.4049G>A | XP_006724537.1:p.Arg1350His | |
| XM_006724475.2:c.4049G>A | XP_006724538.1:p.Arg1350His | |
| XM_011545467.1:c.4049G>A | XP_011543769.1:p.Arg1350His | |
| XM_011545468.1:c.4049G>A | XP_011543770.1:p.Arg1350His | |
| XM_011545469.1:c.4049G>A | XP_011543771.1:p.Arg1350His | |
| XM_006724469.3:c.4025G>A | XP_006724532.1:p.Arg1342His | |
| XM_006724470.3:c.4049G>A | XP_006724533.1:p.Arg1350His | |
| XM_006724474.3:c.4049G>A | XP_006724537.1:p.Arg1350His | |
| XM_011545468.2:c.4049G>A | XP_011543770.1:p.Arg1350His | |
| XM_017029328.1:c.4049G>A | XP_016884817.1:p.Arg1350His | |
| XM_017029329.1:c.4049G>A | XP_016884818.1:p.Arg1350His | |
| XM_017029330.2:c.4049G>A | XP_016884819.1:p.Arg1350His | |
| NM_000109.4:c.4025G>A | NP_000100.3:p.Arg1342His | |
| NM_004006.3:c.4049G>A MANE Select | NP_003997.2:p.Arg1350His |