Linked Data
dbSNP Id:
rs764259393
ExAC:
18:7015761 T / A
gnomAD v2:
18-7015761-T-A
gnomAD v4:
18-7015762-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7015762T>A , CM000680.2:g.7015762T>A | GRCh38 |
| NC_000018.9:g.7015761T>A , CM000680.1:g.7015761T>A | GRCh37 |
| NC_000018.8:g.7005761T>A | NCBI36 |
| NG_034251.1:g.107053A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.3086A>T MANE Select | ENSP00000374309.3:p.Glu1029Val | |
| ENST00000389658.3:c.3086A>T | ENSP00000374309.3:p.Glu1029Val | |
| ENST00000579014.5:n.4101A>T | ||
| NM_005559.3:c.3086A>T | NP_005550.2:p.Glu1029Val | |
| XM_011525655.1:c.3086A>T | XP_011523957.1:p.Glu1029Val | |
| XM_011525656.1:c.1514A>T | XP_011523958.1:p.Glu505Val | |
| XM_011525657.1:c.3086A>T | XP_011523959.1:p.Glu1029Val | |
| XM_011525655.2:c.3086A>T | XP_011523957.1:p.Glu1029Val | |
| XM_011525656.2:c.1514A>T | XP_011523958.1:p.Glu505Val | |
| NM_005559.4:c.3086A>T MANE Select | NP_005550.2:p.Glu1029Val |