Linked Data
ClinVar Variation Id:
422210
ClinVar RCV Id:
RCV000478105
dbSNP Id:
rs1064795631
gnomAD v4:
11-2167474-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2167474A>G , CM000673.2:g.2167474A>G | GRCh38 |
| NC_000011.9:g.2188704A>G , CM000673.1:g.2188704A>G | GRCh37 |
| NC_000011.8:g.2145280A>G | NCBI36 |
| NG_008128.1:g.9332T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.656T>C MANE Select | ENSP00000325951.4:p.Ile219Thr | |
| ENST00000324155.8:c.*345T>C | ENSP00000325831.3:n.*345T>C | |
| ENST00000333684.9:c.656T>C | ENSP00000328814.6:p.Ile219Thr | |
| ENST00000352909.7:c.656T>C | ENSP00000325951.3:p.Ile219Thr | |
| ENST00000381168.7:c.*376T>C | ENSP00000370560.3:n.*376T>C | |
| ENST00000381175.5:c.737T>C | ENSP00000370567.1:p.Ile246Thr | |
| ENST00000381178.5:c.749T>C | ENSP00000370571.1:p.Ile250Thr | |
| ENST00000412076.1:c.96T>C | ||
| ENST00000416223.5:c.96T>C | ||
| ENST00000469226.1:n.785T>C | ||
| NM_000360.3:c.656T>C | NP_000351.2:p.Ile219Thr | |
| NM_199292.2:c.749T>C | NP_954986.2:p.Ile250Thr | |
| NM_199293.2:c.737T>C | NP_954987.2:p.Ile246Thr | |
| XM_011520335.1:c.668T>C | XP_011518637.1:p.Ile223Thr | |
| XM_011520335.2:c.668T>C | XP_011518637.1:p.Ile223Thr | |
| NM_000360.4:c.656T>C MANE Select | NP_000351.2:p.Ile219Thr | |
| NM_199292.3:c.749T>C | NP_954986.2:p.Ile250Thr | |
| NM_199293.3:c.737T>C | NP_954987.2:p.Ile246Thr |