Linked Data
dbSNP Id:
rs2057885123
gnomAD v3:
18-7015815-A-G
gnomAD v4:
18-7015815-A-G
MyVariant Identifiers:
chr18:g.7015814A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7015815A>G , CM000680.2:g.7015815A>G | GRCh38 |
| NC_000018.9:g.7015814A>G , CM000680.1:g.7015814A>G | GRCh37 |
| NC_000018.8:g.7005814A>G | NCBI36 |
| NG_034251.1:g.107000T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.3033T>C MANE Select | ENSP00000374309.3:p.Thr1011= | |
| ENST00000389658.3:c.3033T>C | ENSP00000374309.3:p.Thr1011= | |
| ENST00000579014.5:n.4048T>C | ||
| NM_005559.3:c.3033T>C | NP_005550.2:p.Thr1011= | |
| XM_011525655.1:c.3033T>C | XP_011523957.1:p.Thr1011= | |
| XM_011525656.1:c.1461T>C | XP_011523958.1:p.Thr487= | |
| XM_011525657.1:c.3033T>C | XP_011523959.1:p.Thr1011= | |
| XM_011525655.2:c.3033T>C | XP_011523957.1:p.Thr1011= | |
| XM_011525656.2:c.1461T>C | XP_011523958.1:p.Thr487= | |
| NM_005559.4:c.3033T>C MANE Select | NP_005550.2:p.Thr1011= |