Linked Data
ClinVar Variation Id:
258944
dbSNP Id:
rs200945419
ExAC:
1:158607894 G / A
gnomAD v2:
1-158607894-G-A
gnomAD v3:
1-158638104-G-A
gnomAD v4:
1-158638104-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158638104G>A , CM000663.2:g.158638104G>A | GRCh38 |
| NC_000001.10:g.158607894G>A , CM000663.1:g.158607894G>A | GRCh37 |
| NC_000001.9:g.156874518G>A | NCBI36 |
| NG_011474.1:g.53613C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.5118C>T MANE Select | ENSP00000495214.1:p.His1706= | |
| ENST00000368147.8:c.5118C>T | ENSP00000357129.4:p.His1706= | |
| ENST00000614909.4:c.5118C>T | ENSP00000482595.1:p.His1706= | |
| NM_003126.2:c.5118C>T | NP_003117.2:p.His1706= | |
| XM_011509916.1:c.5118C>T | XP_011508218.1:p.His1706= | |
| XM_011509917.1:c.5118C>T | XP_011508219.1:p.His1706= | |
| XM_011509918.1:c.5118C>T | XP_011508220.1:p.His1706= | |
| XM_011509919.1:c.4981-1343C>T | XP_011508221.1:n.4981-1343C>T | |
| XR_921911.1:n.5231C>T | ||
| NM_003126.3:c.5118C>T | NP_003117.2:p.His1706= | |
| XM_011509916.2:c.5118C>T | XP_011508218.1:p.His1706= | |
| XM_011509917.3:c.5118C>T | XP_011508219.1:p.His1706= | |
| XM_011509918.3:c.5118C>T | XP_011508220.1:p.His1706= | |
| XM_011509919.3:c.4981-1343C>T | XP_011508221.1:n.4981-1343C>T | |
| XR_921911.3:n.5244C>T | ||
| NM_003126.4:c.5118C>T MANE Select | NP_003117.2:p.His1706= |