Linked Data
ClinVar Variation Id:
135657
ClinVar RCV Id:
RCV000122735
dbSNP Id:
rs587777427
gnomAD v4:
18-26293530-C-T
PubMed:
PMID:24431330
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.26293530C>T , CM000680.2:g.26293530C>T | GRCh38 |
| NC_000018.9:g.23873494C>T , CM000680.1:g.23873494C>T | GRCh37 |
| NC_000018.8:g.22127492C>T | NCBI36 |
| NG_034162.1:g.71648C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269142.10:c.1831C>T MANE Select | ENSP00000269142.6:p.Arg611Ter | |
| ENST00000269142.9:c.1831C>T | ENSP00000269142.5:p.Arg611Ter | |
| ENST00000400466.6:c.1840C>T | ENSP00000383314.3:p.Arg614Ter | |
| ENST00000418698.3:c.1831C>T | ENSP00000389365.3:p.Arg611Trp | |
| ENST00000578121.5:c.1846C>T | ENSP00000462980.1:p.Arg616Ter | |
| NM_001293725.1:c.1846C>T | NP_001280654.1:p.Arg616Ter | |
| NM_005640.2:c.1831C>T | NP_005631.1:p.Arg611Ter | |
| NR_121653.1:n.1882C>T | ||
| XM_005258339.2:c.1831C>T | XP_005258396.1:p.Arg611Trp | |
| XM_006722528.2:c.1831C>T | XP_006722591.2:p.Arg611Ter | |
| XM_011526153.1:c.1831C>T | XP_011524455.1:p.Arg611Trp | |
| XM_005258339.3:c.1831C>T | XP_005258396.1:p.Arg611Trp | |
| XM_011526153.2:c.1831C>T | XP_011524455.1:p.Arg611Trp | |
| XM_017025932.1:c.1831C>T | XP_016881421.1:p.Arg611Cys | |
| XM_017025933.1:c.1069C>T | XP_016881422.1:p.Arg357Ter | |
| XM_024451239.1:c.1831C>T | XP_024307007.1:p.Arg611Ter | |
| NM_001293725.2:c.1846C>T | NP_001280654.1:p.Arg616Ter | |
| NM_005640.3:c.1831C>T MANE Select | NP_005631.1:p.Arg611Ter | |
| NR_121653.2:n.2320C>T |