Linked Data
ClinVar Variation Id:
10358
ClinVar RCV Id:
RCV000011071
dbSNP Id:
rs137852352
PubMed:
PMID:17989220
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.123464905T>C , CM000685.2:g.123464905T>C | GRCh38 |
| NC_000023.10:g.122598756T>C , CM000685.1:g.122598756T>C | GRCh37 |
| NC_000023.9:g.122426437T>C | NCBI36 |
| NG_009377.2:g.285663T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000620443.2:c.2117T>C MANE Select | ENSP00000478489.1:p.Met706Thr | |
| ENST00000622768.5:c.2117T>C MANE Plus Clinical | ENSP00000481554.1:p.Met706Thr | |
| ENST00000541091.5:c.2117T>C | ENSP00000446440.2:p.Met706Thr | |
| ENST00000620443.1:c.2117T>C | ENSP00000478489.1:p.Met706Thr | |
| ENST00000620581.4:c.2117T>C | ENSP00000481875.1:p.Met706Thr | |
| ENST00000622768.4:c.2117T>C | ENSP00000481554.1:p.Met706Thr | |
| NM_000828.4:c.2117T>C | NP_000819.3:p.Met706Thr | |
| NM_007325.4:c.2117T>C | NP_015564.4:p.Met706Thr | |
| XR_938574.1:n.4959+1849A>G | ||
| NM_007325.5:c.2117T>C MANE Select | NP_015564.5:p.Met706Thr | |
| NM_000828.5:c.2117T>C MANE Plus Clinical | NP_000819.4:p.Met706Thr |