Linked Data
ClinVar Variation Id:
1913000
ClinVar RCV Id:
RCV002593543
dbSNP Id:
rs750460729
ExAC:
18:7015795 G / T
gnomAD v2:
18-7015795-G-T
gnomAD v4:
18-7015796-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7015796G>T , CM000680.2:g.7015796G>T | GRCh38 |
| NC_000018.9:g.7015795G>T , CM000680.1:g.7015795G>T | GRCh37 |
| NC_000018.8:g.7005795G>T | NCBI36 |
| NG_034251.1:g.107019C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.3052C>A MANE Select | ENSP00000374309.3:p.Pro1018Thr | |
| ENST00000389658.3:c.3052C>A | ENSP00000374309.3:p.Pro1018Thr | |
| ENST00000579014.5:n.4067C>A | ||
| NM_005559.3:c.3052C>A | NP_005550.2:p.Pro1018Thr | |
| XM_011525655.1:c.3052C>A | XP_011523957.1:p.Pro1018Thr | |
| XM_011525656.1:c.1480C>A | XP_011523958.1:p.Pro494Thr | |
| XM_011525657.1:c.3052C>A | XP_011523959.1:p.Pro1018Thr | |
| XM_011525655.2:c.3052C>A | XP_011523957.1:p.Pro1018Thr | |
| XM_011525656.2:c.1480C>A | XP_011523958.1:p.Pro494Thr | |
| NM_005559.4:c.3052C>A MANE Select | NP_005550.2:p.Pro1018Thr |