Linked Data
ClinVar Variation Id:
39455
ClinVar RCV Id:
RCV000032650
dbSNP Id:
rs398122892
gnomAD v2:
1-154561932-C-T
gnomAD v4:
1-154589456-C-T
PubMed:
PMID:23001123
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154589456C>T , CM000663.2:g.154589456C>T | GRCh38 |
| NC_000001.10:g.154561932C>T , CM000663.1:g.154561932C>T | GRCh37 |
| NC_000001.9:g.152828556C>T | NCBI36 |
| NG_011844.1:g.43506G>A | |
| NG_011844.2:g.47105G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649042.2:c.2569G>A | ENSP00000497790.2:n.2569G>A | |
| ENST00000649724.2:c.2705G>A | ENSP00000497932.2:p.Arg902His | |
| ENST00000680270.2:c.2558G>A | ENSP00000505532.2:p.Arg853His | |
| ENST00000681056.2:c.2327G>A | ENSP00000506234.2:p.Arg776His | |
| ENST00000368471.8:c.1790G>A | ENSP00000357456.3:p.Arg597His | |
| ENST00000368474.9:c.2675G>A MANE Select | ENSP00000357459.4:p.Arg892His | |
| ENST00000529168.2:c.2597G>A | ENSP00000431794.2:p.Arg866His | |
| ENST00000647682.2:n.2660G>A | ||
| ENST00000648231.2:c.1790G>A | ENSP00000497555.1:p.Arg597His | |
| ENST00000648311.1:c.1790G>A | ENSP00000498137.1:p.Arg597His | |
| ENST00000648714.2:c.*150G>A | ENSP00000497434.2:n.*150G>A | |
| ENST00000649021.1:n.2711G>A | ||
| ENST00000649022.2:c.1790G>A | ENSP00000496896.2:p.Arg597His | |
| ENST00000649042.1:c.1790G>A | ENSP00000497790.1:p.Arg597His | |
| ENST00000649408.2:c.2675G>A | ENSP00000497386.2:p.Arg892His | |
| ENST00000649724.1:c.1790G>A | ENSP00000497932.1:p.Arg597His | |
| ENST00000649749.1:c.1790G>A | ENSP00000497210.1:p.Arg597His | |
| ENST00000679375.1:c.*907G>A | ENSP00000505887.1:n.*907G>A | |
| ENST00000679465.1:n.3128G>A | ||
| ENST00000679805.1:n.2711G>A | ||
| ENST00000679899.1:c.1733G>A | ENSP00000505996.1:p.Arg578His | |
| ENST00000680270.1:c.1790G>A | ENSP00000505532.1:p.Arg597His | |
| ENST00000680305.1:c.2675G>A | ENSP00000506312.1:p.Arg892His | |
| ENST00000681056.1:c.1790G>A | ENSP00000506234.1:p.Arg597His | |
| ENST00000681235.1:c.*2197G>A | ENSP00000506606.1:n.*2197G>A | |
| ENST00000681429.1:n.1935G>A | ||
| ENST00000681683.1:c.1790G>A | ENSP00000506666.1:p.Arg597His | |
| ENST00000681786.1:n.3128G>A | ||
| ENST00000681901.1:c.*2275G>A | ENSP00000504883.1:n.*2275G>A | |
| ENST00000368471.7:c.1790G>A | ENSP00000357456.3:p.Arg597His | |
| ENST00000368474.8:c.2675G>A | ENSP00000357459.4:p.Arg892His | |
| ENST00000529168.1:c.2582G>A | ENSP00000431794.1:p.Arg861His | |
| NM_001025107.2:c.1790G>A | NP_001020278.1:p.Arg597His | |
| NM_001111.4:c.2675G>A | NP_001102.2:p.Arg892His | |
| NM_001193495.1:c.1790G>A | NP_001180424.1:p.Arg597His | |
| NM_015840.3:c.2597G>A | NP_056655.2:p.Arg866His | |
| NM_015841.3:c.2540G>A | NP_056656.2:p.Arg847His | |
| XM_006711109.1:c.2705G>A | XP_006711172.1:p.Arg902His | |
| XM_006711111.2:c.1790G>A | XP_006711174.1:p.Arg597His | |
| XM_006711112.1:c.1790G>A | XP_006711175.1:p.Arg597His | |
| XM_006711113.1:c.1790G>A | XP_006711176.1:p.Arg597His | |
| XM_011509060.1:c.2804G>A | XP_011507362.1:p.Arg935His | |
| XM_011509061.1:c.2726G>A | XP_011507363.1:p.Arg909His | |
| XM_011509062.1:c.2693G>A | XP_011507364.1:p.Arg898His | |
| NM_001025107.3:c.1790G>A | NP_001020278.1:p.Arg597His | |
| NM_001111.5:c.2675G>A MANE Select | NP_001102.3:p.Arg892His | |
| NM_001193495.2:c.1790G>A | NP_001180424.1:p.Arg597His | |
| NM_001365045.1:c.2702G>A | NP_001351974.1:p.Arg901His | |
| NM_001365046.1:c.1790G>A | NP_001351975.1:p.Arg597His | |
| NM_001365047.1:c.1790G>A | NP_001351976.1:p.Arg597His | |
| NM_001365048.1:c.1790G>A | NP_001351977.1:p.Arg597His | |
| NM_001365049.1:c.1712G>A | NP_001351978.1:p.Arg571His | |
| NM_015840.4:c.2597G>A | NP_056655.3:p.Arg866His | |
| NM_015841.4:c.2540G>A | NP_056656.3:p.Arg847His | |
| XM_006711113.2:c.1790G>A | XP_006711176.1:p.Arg597His | |
| XM_011509061.2:c.1712G>A | XP_011507363.2:p.Arg571His | |
| XM_024449674.1:c.2804G>A | XP_024305442.1:p.Arg935His |