Linked Data
ClinVar Variation Id:
2009692
ClinVar RCV Id:
RCV002842616
dbSNP Id:
rs754303766
gnomAD v2:
18-7015799-G-T
gnomAD v4:
18-7015800-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7015800G>T , CM000680.2:g.7015800G>T | GRCh38 |
| NC_000018.9:g.7015799G>T , CM000680.1:g.7015799G>T | GRCh37 |
| NC_000018.8:g.7005799G>T | NCBI36 |
| NG_034251.1:g.107015C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.3048C>A MANE Select | ENSP00000374309.3:p.Cys1016Ter | |
| ENST00000389658.3:c.3048C>A | ENSP00000374309.3:p.Cys1016Ter | |
| ENST00000579014.5:n.4063C>A | ||
| NM_005559.3:c.3048C>A | NP_005550.2:p.Cys1016Ter | |
| XM_011525655.1:c.3048C>A | XP_011523957.1:p.Cys1016Ter | |
| XM_011525656.1:c.1476C>A | XP_011523958.1:p.Cys492Ter | |
| XM_011525657.1:c.3048C>A | XP_011523959.1:p.Cys1016Ter | |
| XM_011525655.2:c.3048C>A | XP_011523957.1:p.Cys1016Ter | |
| XM_011525656.2:c.1476C>A | XP_011523958.1:p.Cys492Ter | |
| NM_005559.4:c.3048C>A MANE Select | NP_005550.2:p.Cys1016Ter |