Linked Data
ClinVar Variation Id:
1547168
ClinVar RCV Id:
RCV002173315
dbSNP Id:
rs1846099712
gnomAD v4:
11-2166650-G-T
MyVariant Identifiers:
chr11:g.2187880G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166650G>T , CM000673.2:g.2166650G>T | GRCh38 |
| NC_000011.9:g.2187880G>T , CM000673.1:g.2187880G>T | GRCh37 |
| NC_000011.8:g.2144456G>T | NCBI36 |
| NG_008128.1:g.10156C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.960C>A MANE Select | ENSP00000325951.4:p.Pro320= | |
| ENST00000324155.8:c.*649C>A | ENSP00000325831.3:n.*649C>A | |
| ENST00000333684.9:c.696-101C>A | ENSP00000328814.6:n.696-101C>A | |
| ENST00000352909.7:c.960C>A | ENSP00000325951.3:p.Pro320= | |
| ENST00000381168.7:c.*680C>A | ENSP00000370560.3:n.*680C>A | |
| ENST00000381175.5:c.1041C>A | ENSP00000370567.1:p.Pro347= | |
| ENST00000381178.5:c.1053C>A | ENSP00000370571.1:p.Pro351= | |
| ENST00000412076.1:c.136-101C>A | ||
| ENST00000416223.5:c.254C>A | ||
| ENST00000461172.1:n.125C>A | ||
| ENST00000479437.5:n.509C>A | ||
| NM_000360.3:c.960C>A | NP_000351.2:p.Pro320= | |
| NM_199292.2:c.1053C>A | NP_954986.2:p.Pro351= | |
| NM_199293.2:c.1041C>A | NP_954987.2:p.Pro347= | |
| XM_011520335.1:c.972C>A | XP_011518637.1:p.Pro324= | |
| XM_011520335.2:c.972C>A | XP_011518637.1:p.Pro324= | |
| NM_000360.4:c.960C>A MANE Select | NP_000351.2:p.Pro320= | |
| NM_199292.3:c.1053C>A | NP_954986.2:p.Pro351= | |
| NM_199293.3:c.1041C>A | NP_954987.2:p.Pro347= |