Linked Data
ClinVar Variation Id:
283612
dbSNP Id:
rs143282787
ExAC:
1:120459186 G / A
gnomAD v2:
1-120459186-G-A
gnomAD v3:
1-119916563-G-A
gnomAD v4:
1-119916563-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119916563G>A , CM000663.2:g.119916563G>A | GRCh38 |
| NC_000001.10:g.120459186G>A , CM000663.1:g.120459186G>A | GRCh37 |
| NC_000001.9:g.120260709G>A | NCBI36 |
| NG_008163.1:g.158091C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.6159C>T MANE Select | ENSP00000256646.2:p.Arg2053= | |
| ENST00000256646.6:c.6159C>T | ENSP00000256646.2:p.Arg2053= | |
| NM_024408.3:c.6159C>T | NP_077719.2:p.Arg2053= | |
| XM_005270901.2:c.6042C>T | XP_005270958.1:p.Arg2014= | |
| XM_011541519.1:c.6147C>T | XP_011539821.1:p.Arg2049= | |
| XM_011541520.1:c.6042C>T | XP_011539822.1:p.Arg2014= | |
| NM_024408.4:c.6159C>T MANE Select | NP_077719.2:p.Arg2053= |