Linked Data
ClinVar Variation Id:
705583
ClinVar RCV Id:
RCV002539209
dbSNP Id:
rs769897682
gnomAD v4:
11-2169806-C-T
MyVariant Identifiers:
chr11:g.2191036C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2169806C>T , CM000673.2:g.2169806C>T | GRCh38 |
| NC_000011.9:g.2191036C>T , CM000673.1:g.2191036C>T | GRCh37 |
| NC_000011.8:g.2147612C>T | NCBI36 |
| NG_008128.1:g.7000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.156G>A MANE Select | ENSP00000325951.4:p.Ala52= | |
| ENST00000324155.8:c.91-111G>A | ENSP00000325831.3:n.91-111G>A | |
| ENST00000333684.9:c.156G>A | ENSP00000328814.6:p.Ala52= | |
| ENST00000352909.7:c.156G>A | ENSP00000325951.3:p.Ala52= | |
| ENST00000381168.7:c.103-111G>A | ENSP00000370560.3:n.103-111G>A | |
| ENST00000381175.5:c.237G>A | ENSP00000370567.1:p.Ala79= | |
| ENST00000381178.5:c.249G>A | ENSP00000370571.1:p.Ala83= | |
| NM_000360.3:c.156G>A | NP_000351.2:p.Ala52= | |
| NM_199292.2:c.249G>A | NP_954986.2:p.Ala83= | |
| NM_199293.2:c.237G>A | NP_954987.2:p.Ala79= | |
| XM_011520335.1:c.168G>A | XP_011518637.1:p.Ala56= | |
| XM_011520335.2:c.168G>A | XP_011518637.1:p.Ala56= | |
| NM_000360.4:c.156G>A MANE Select | NP_000351.2:p.Ala52= | |
| NM_199292.3:c.249G>A | NP_954986.2:p.Ala83= | |
| NM_199293.3:c.237G>A | NP_954987.2:p.Ala79= |