Linked Data
dbSNP Id:
rs761363444
ExAC:
2:220037718 G / A
gnomAD v2:
2-220037718-G-A
gnomAD v3:
2-219172996-G-A
gnomAD v4:
2-219172996-G-A
COSMIC:
COSM3577892
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219172996G>A , CM000664.2:g.219172996G>A | GRCh38 |
| NC_000002.11:g.220037718G>A , CM000664.1:g.220037718G>A | GRCh37 |
| NC_000002.10:g.219745962G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360507.10:c.823C>T MANE Select | ENSP00000353698.5:p.Arg275Cys | |
| ENST00000360507.9:c.823C>T | ENSP00000353698.5:p.Arg275Cys | |
| ENST00000409789.5:c.823C>T | ENSP00000386277.1:p.Arg275Cys | |
| ENST00000453038.5:c.823C>T | ENSP00000410109.1:p.Arg275Cys | |
| NM_015680.4:c.823C>T | NP_056495.3:p.Arg275Cys | |
| XM_005246462.2:c.823C>T | XP_005246519.1:p.Arg275Cys | |
| XM_005246463.3:c.823C>T | XP_005246520.1:p.Arg275Cys | |
| XM_006712419.1:c.823C>T | XP_006712482.1:p.Arg275Cys | |
| NM_001321389.1:c.823C>T | NP_001308318.1:p.Arg275Cys | |
| NM_001321390.1:c.823C>T | NP_001308319.1:p.Arg275Cys | |
| NM_001321391.1:c.823C>T | NP_001308320.1:p.Arg275Cys | |
| NM_015680.5:c.823C>T | NP_056495.3:p.Arg275Cys | |
| NR_135628.1:n.868C>T | ||
| NR_135629.1:n.926C>T | ||
| XM_024452790.1:c.853C>T | XP_024308558.1:p.Arg285Cys | |
| NM_015680.6:c.823C>T MANE Select | NP_056495.4:p.Arg275Cys | |
| NM_001321390.2:c.823C>T | NP_001308319.2:p.Arg275Cys | |
| NM_001321391.2:c.823C>T | NP_001308320.2:p.Arg275Cys | |
| NR_135628.2:n.851C>T | ||
| NR_135629.2:n.858C>T | ||
| NM_001321389.2:c.823C>T | NP_001308318.2:p.Arg275Cys |