Linked Data
ClinVar Variation Id:
1106466
ClinVar RCV Id:
RCV001431221
dbSNP Id:
rs1674735790
MyVariant Identifiers:
chr1:g.206942047G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206768702G>T , CM000663.2:g.206768702G>T | GRCh38 |
| NC_000001.10:g.206942047G>T , CM000663.1:g.206942047G>T | GRCh37 |
| NC_000001.9:g.205008670G>T | NCBI36 |
| NG_012088.1:g.8793C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367099.4:n.1476C>A | ||
| ENST00000471071.2:c.216C>A | ENSP00000493073.2:p.Ala72= | |
| ENST00000640756.2:n.281C>A | ||
| ENST00000659065.2:c.354C>A | ENSP00000499588.1:p.Ala118= | |
| ENST00000659642.2:c.354C>A | ENSP00000499509.1:p.Ala118= | |
| ENST00000664374.2:c.354C>A | ENSP00000499664.1:p.Ala118= | |
| ENST00000640756.1:n.270C>A | ||
| ENST00000659065.1:c.354C>A | ENSP00000499588.1:p.Ala118= | |
| ENST00000659642.1:c.354C>A | ENSP00000499509.1:p.Ala118= | |
| ENST00000664374.1:c.354C>A | ENSP00000499664.1:p.Ala118= | |
| ENST00000423557.1:c.471C>A MANE Select | ENSP00000412237.1:p.Ala157= | |
| ENST00000471071.1:n.386C>A | ||
| NM_000572.2:c.471C>A | NP_000563.1:p.Ala157= | |
| XM_011509506.1:c.471C>A | XP_011507808.1:p.Ala157= | |
| NM_000572.3:c.471C>A MANE Select | NP_000563.1:p.Ala157= | |
| NM_001382624.1:c.216C>A | NP_001369553.1:p.Ala72= | |
| NR_168466.1:n.768C>A | ||
| NR_168467.1:n.298C>A |