Revel Score:
ENST00000263967 (MANE Select)
0.654
ENST00000468036
0.654
gnomAD v2:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179198938G>A , CM000665.2:g.179198938G>A | GRCh38 |
| NC_000003.11:g.178916726G>A , CM000665.1:g.178916726G>A | GRCh37 |
| NC_000003.10:g.180399420G>A | NCBI36 |
| NG_012113.2:g.55416G>A , LRG_310:g.55416G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.113G>A MANE Select | ENSP00000263967.3:p.Arg38His | |
| ENST00000643187.1:c.113G>A | ENSP00000493507.1:p.Arg38His | |
| ENST00000675467.1:n.2920G>A | ||
| ENST00000675786.1:c.113G>A | ENSP00000502323.1:p.Arg38His | |
| ENST00000263967.3:c.113G>A | ENSP00000263967.3:p.Arg38His | |
| ENST00000468036.1:c.113G>A | ENSP00000417479.1:p.Arg38His | |
| NM_006218.2:c.113G>A , LRG_310t1:c.113G>A | NP_006209.2:p.Arg38His | |
| XM_006713658.2:c.113G>A | XP_006713721.1:p.Arg38His | |
| XM_011512894.1:c.113G>A | XP_011511196.1:p.Arg38His | |
| NM_006218.3:c.113G>A | NP_006209.2:p.Arg38His | |
| XM_006713658.4:c.113G>A | XP_006713721.1:p.Arg38His | |
| XM_011512894.2:c.113G>A | XP_011511196.1:p.Arg38His | |
| NM_006218.4:c.113G>A MANE Select | NP_006209.2:p.Arg38His |