Linked Data
ClinVar Variation Id:
14027
dbSNP Id:
rs121918123
gnomAD v3:
12-57012845-A-G
gnomAD v4:
12-57012845-A-G
PubMed:
PMID:19079066
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57012845A>G , CM000674.2:g.57012845A>G | GRCh38 |
| NC_000012.11:g.57406629A>G , CM000674.1:g.57406629A>G | GRCh37 |
| NC_000012.10:g.55692896A>G | NCBI36 |
| NG_021398.1:g.8716T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000458521.7:c.269T>C MANE Select | ENSP00000404056.2:p.Met90Thr | |
| ENST00000300108.7:c.269T>C | ENSP00000300108.3:p.Met90Thr | |
| ENST00000357616.7:c.269T>C | ENSP00000350236.3:p.Met90Thr | |
| ENST00000379411.6:c.239-393T>C | ENSP00000368721.2:n.239-393T>C | |
| ENST00000393867.5:c.269T>C | ENSP00000377445.1:p.Met90Thr | |
| ENST00000415231.1:c.269T>C | ENSP00000402995.1:p.Met90Thr | |
| ENST00000423597.5:c.239-393T>C | ENSP00000416292.1:n.239-393T>C | |
| ENST00000438756.5:c.269T>C | ENSP00000408131.1:p.Met90Thr | |
| ENST00000441881.5:c.239-393T>C | ENSP00000408208.1:n.239-393T>C | |
| ENST00000458521.6:c.269T>C | ENSP00000404056.2:p.Met90Thr | |
| ENST00000615887.4:c.269T>C | ENSP00000483110.1:p.Met90Thr | |
| NM_001178054.1:c.239-393T>C | NP_001171525.1:n.239-393T>C | |
| NM_013251.3:c.269T>C | NP_037383.1:p.Met90Thr | |
| NR_033654.1:n.448T>C | ||
| XM_011538711.1:c.269T>C | XP_011537013.1:p.Met90Thr | |
| NR_135164.1:n.448T>C | ||
| NR_135165.1:n.448T>C | ||
| NR_135166.1:n.418-393T>C | ||
| NM_013251.4:c.269T>C MANE Select | NP_037383.1:p.Met90Thr | |
| NM_001178054.2:c.239-393T>C | NP_001171525.1:n.239-393T>C | |
| NR_033654.2:n.417T>C | ||
| NR_135164.2:n.417T>C | ||
| NR_135165.2:n.417T>C | ||
| NR_135166.2:n.387-393T>C |