Linked Data
ClinVar Variation Id:
1108945
dbSNP Id:
rs748676695
ExAC:
3:48605037 G / T
gnomAD v2:
3-48605037-G-T
gnomAD v3:
3-48567604-G-T
gnomAD v4:
3-48567604-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48567604G>T , CM000665.2:g.48567604G>T | GRCh38 |
| NC_000003.11:g.48605037G>T , CM000665.1:g.48605037G>T | GRCh37 |
| NC_000003.10:g.48580041G>T | NCBI36 |
| NG_007065.1:g.32649C>A , LRG_286:g.32649C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.8016C>A MANE Select | ENSP00000506558.1:p.Ala2672= | |
| ENST00000328333.12:c.8016C>A | ENSP00000332371.8:p.Ala2672= | |
| ENST00000487017.5:n.4655C>A | ||
| NM_000094.3:c.8016C>A , LRG_286t1:c.8016C>A | NP_000085.1:p.Ala2672= | |
| XM_011533336.1:c.8043C>A | XP_011531638.1:p.Ala2681= | |
| XM_011533337.1:c.8016C>A | XP_011531639.1:p.Ala2672= | |
| XM_011533338.1:c.7983C>A | XP_011531640.1:p.Ala2661= | |
| XR_940369.1:n.8079C>A | ||
| XR_940370.1:n.8079C>A | ||
| XR_940371.1:n.8079C>A | ||
| XM_017005688.1:c.7956C>A | XP_016861177.1:p.Ala2652= | |
| XR_001740003.1:n.8052C>A | ||
| XR_001740004.1:n.8052C>A | ||
| XR_001740005.1:n.8052C>A | ||
| NM_000094.4:c.8016C>A MANE Select | NP_000085.1:p.Ala2672= |