Linked Data
ClinVar Variation Id:
12329
ClinVar RCV Id:
RCV000013122
dbSNP Id:
rs28934581
ExAC:
11:2188225 T / G
gnomAD v2:
11-2188225-T-G
gnomAD v4:
11-2166995-T-G
PubMed:
PMID:11246459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166995T>G , CM000673.2:g.2166995T>G | GRCh38 |
| NC_000011.9:g.2188225T>G , CM000673.1:g.2188225T>G | GRCh37 |
| NC_000011.8:g.2144801T>G | NCBI36 |
| NG_008128.1:g.9811A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.733A>C MANE Select | ENSP00000325951.4:p.Thr245Pro | |
| ENST00000324155.8:c.*422A>C | ENSP00000325831.3:n.*422A>C | |
| ENST00000333684.9:c.695+440A>C | ENSP00000328814.6:n.695+440A>C | |
| ENST00000352909.7:c.733A>C | ENSP00000325951.3:p.Thr245Pro | |
| ENST00000381168.7:c.*453A>C | ENSP00000370560.3:n.*453A>C | |
| ENST00000381175.5:c.814A>C | ENSP00000370567.1:p.Thr272Pro | |
| ENST00000381178.5:c.826A>C | ENSP00000370571.1:p.Thr276Pro | |
| ENST00000412076.1:c.135+440A>C | ||
| ENST00000416223.5:c.136-227A>C | ||
| ENST00000469226.1:n.862A>C | ||
| ENST00000479437.5:n.282A>C | ||
| NM_000360.3:c.733A>C | NP_000351.2:p.Thr245Pro | |
| NM_199292.2:c.826A>C | NP_954986.2:p.Thr276Pro | |
| NM_199293.2:c.814A>C | NP_954987.2:p.Thr272Pro | |
| XM_011520335.1:c.745A>C | XP_011518637.1:p.Thr249Pro | |
| XM_011520335.2:c.745A>C | XP_011518637.1:p.Thr249Pro | |
| NM_000360.4:c.733A>C MANE Select | NP_000351.2:p.Thr245Pro | |
| NM_199292.3:c.826A>C | NP_954986.2:p.Thr276Pro | |
| NM_199293.3:c.814A>C | NP_954987.2:p.Thr272Pro |