ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.15936816G>A , CM000667.2:g.15936816G>A | GRCh38 |
| NC_000005.9:g.15936925G>A , CM000667.1:g.15936925G>A | GRCh37 |
| NC_000005.8:g.15989925G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504595.2:c.1106G>A MANE Select | ENSP00000423630.1:p.Arg369His | |
| ENST00000329673.8:c.980G>A | ENSP00000329632.8:p.Arg327His | |
| ENST00000504595.1:c.1106G>A | ENSP00000423630.1:p.Arg369His | |
| ENST00000510662.1:c.965G>A | ENSP00000425184.1:p.Arg322His | |
| NM_001278317.1:c.965G>A | NP_001265246.1:p.Arg322His | |
| NM_012304.4:c.1106G>A | NP_036436.1:p.Arg369His | |
| XM_005248273.3:c.1091G>A | XP_005248330.1:p.Arg364His | |
| XM_011513998.1:c.965G>A | XP_011512300.1:p.Arg322His | |
| XM_017009262.2:c.1091G>A | XP_016864751.1:p.Arg364His | |
| NM_012304.5:c.1106G>A MANE Select | NP_036436.1:p.Arg369His | |
| NM_001278317.2:c.965G>A | NP_001265246.1:p.Arg322His |