Linked Data
ClinVar Variation Id:
930
dbSNP Id:
rs28934886
gnomAD v2:
3-33058310-C-T
gnomAD v3:
3-33016818-C-T
gnomAD v4:
3-33016818-C-T
PubMed:
PMID:1907800
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33016818C>T , CM000665.2:g.33016818C>T | GRCh38 |
| NC_000003.11:g.33058310C>T , CM000665.1:g.33058310C>T | GRCh37 |
| NC_000003.10:g.33033314C>T | NCBI36 |
| NG_009005.1:g.85385G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307363.10:c.1370G>A MANE Select | ENSP00000306920.4:p.Arg457Gln | |
| ENST00000307363.9:c.1370G>A | ENSP00000306920.4:p.Arg457Gln | |
| ENST00000307377.12:c.977G>A | ENSP00000305920.8:p.Arg326Gln | |
| ENST00000399402.7:c.1280G>A | ENSP00000382333.2:p.Arg427Gln | |
| ENST00000461475.5:n.469G>A | ||
| ENST00000467571.5:n.407G>A | ||
| ENST00000497796.5:n.622G>A | ||
| NM_000404.2:c.1370G>A | NP_000395.2:p.Arg457Gln | |
| NM_000404.3:c.1370G>A | NP_000395.2:p.Arg457Gln | |
| NM_001079811.1:c.1280G>A | NP_001073279.1:p.Arg427Gln | |
| NM_001079811.2:c.1280G>A | NP_001073279.1:p.Arg427Gln | |
| NM_001135602.1:c.977G>A | NP_001129074.1:p.Arg326Gln | |
| NM_001135602.2:c.977G>A | NP_001129074.1:p.Arg326Gln | |
| NM_001317040.1:c.1514G>A | NP_001303969.1:p.Arg505Gln | |
| NM_000404.4:c.1370G>A MANE Select | NP_000395.3:p.Arg457Gln | |
| NM_001079811.3:c.1280G>A | NP_001073279.2:p.Arg427Gln | |
| NM_001135602.3:c.977G>A | NP_001129074.2:p.Arg326Gln | |
| NM_001317040.2:c.1514G>A | NP_001303969.2:p.Arg505Gln | |
| NM_001393580.1:c.1370G>A | NP_001380509.1:p.Arg457Gln |