Linked Data
ClinVar Variation Id:
756092
ClinVar RCV Id:
RCV000933564
dbSNP Id:
rs1574339007
gnomAD v4:
1-210920031-C-T
MyVariant Identifiers:
chr1:g.211093373C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210920031C>T , CM000663.2:g.210920031C>T | GRCh38 |
| NC_000001.10:g.211093373C>T , CM000663.1:g.211093373C>T | GRCh37 |
| NC_000001.9:g.209159996C>T | NCBI36 |
| NG_029777.1:g.219085G>A | |
| NG_029777.2:g.219085G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271751.10:c.1071G>A MANE Select | ENSP00000271751.4:p.Arg357= | |
| ENST00000367007.5:c.990G>A | ENSP00000355974.5:p.Arg330= | |
| ENST00000638357.1:c.404G>A | ||
| ENST00000638498.1:c.1071G>A | ENSP00000490983.1:p.Arg357= | |
| ENST00000638960.1:c.990G>A | ENSP00000492302.1:p.Arg330= | |
| ENST00000638983.1:c.952-58837G>A | ENSP00000492641.1:n.952-58837G>A | |
| ENST00000639385.1:n.439G>A | ||
| ENST00000639602.1:c.861G>A | ENSP00000492303.1:p.Arg287= | |
| ENST00000639754.1:n.1274G>A | ||
| ENST00000639952.1:c.990G>A | ENSP00000492697.1:p.Arg330= | |
| ENST00000640044.1:c.311-115865G>A | ENSP00000491434.1:n.311-115865G>A | |
| ENST00000640243.1:c.951+98833G>A | ENSP00000492803.1:n.951+98833G>A | |
| ENST00000640522.1:c.1032+98752G>A | ENSP00000491019.1:n.1032+98752G>A | |
| ENST00000640528.1:c.990G>A | ENSP00000491725.1:p.Arg330= | |
| ENST00000640566.1:c.311-144487G>A | ENSP00000491302.1:n.311-144487G>A | |
| ENST00000640710.1:c.990G>A | ENSP00000492513.1:p.Arg330= | |
| ENST00000640890.1:n.1092G>A | ||
| ENST00000271751.8:c.1071G>A | ENSP00000271751.4:p.Arg357= | |
| ENST00000367007.4:c.990G>A | ENSP00000355974.4:p.Arg330= | |
| NM_002238.3:c.990G>A | NP_002229.1:p.Arg330= | |
| NM_172362.2:c.1071G>A | NP_758872.1:p.Arg357= | |
| XM_011509514.1:c.-106G>A | XP_011507816.1:n.-106G>A | |
| XM_017001246.1:c.-106G>A | XP_016856735.1:n.-106G>A | |
| NM_172362.3:c.1071G>A MANE Select | NP_758872.1:p.Arg357= | |
| NM_002238.4:c.990G>A | NP_002229.1:p.Arg330= |