Linked Data
ClinVar Variation Id:
1664451
ClinVar RCV Id:
RCV002181743
dbSNP Id:
rs2133692968
gnomAD v4:
11-2166743-A-T
MyVariant Identifiers:
chr11:g.2187973A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166743A>T , CM000673.2:g.2166743A>T | GRCh38 |
| NC_000011.9:g.2187973A>T , CM000673.1:g.2187973A>T | GRCh37 |
| NC_000011.8:g.2144549A>T | NCBI36 |
| NG_008128.1:g.10063T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.867T>A MANE Select | ENSP00000325951.4:p.Pro289= | |
| ENST00000324155.8:c.*556T>A | ENSP00000325831.3:n.*556T>A | |
| ENST00000333684.9:c.696-194T>A | ENSP00000328814.6:n.696-194T>A | |
| ENST00000352909.7:c.867T>A | ENSP00000325951.3:p.Pro289= | |
| ENST00000381168.7:c.*587T>A | ENSP00000370560.3:n.*587T>A | |
| ENST00000381175.5:c.948T>A | ENSP00000370567.1:p.Pro316= | |
| ENST00000381178.5:c.960T>A | ENSP00000370571.1:p.Pro320= | |
| ENST00000412076.1:c.136-194T>A | ||
| ENST00000416223.5:c.161T>A | ||
| ENST00000461172.1:n.32T>A | ||
| ENST00000479437.5:n.416T>A | ||
| NM_000360.3:c.867T>A | NP_000351.2:p.Pro289= | |
| NM_199292.2:c.960T>A | NP_954986.2:p.Pro320= | |
| NM_199293.2:c.948T>A | NP_954987.2:p.Pro316= | |
| XM_011520335.1:c.879T>A | XP_011518637.1:p.Pro293= | |
| XM_011520335.2:c.879T>A | XP_011518637.1:p.Pro293= | |
| NM_000360.4:c.867T>A MANE Select | NP_000351.2:p.Pro289= | |
| NM_199292.3:c.960T>A | NP_954986.2:p.Pro320= | |
| NM_199293.3:c.948T>A | NP_954987.2:p.Pro316= |