Linked Data
ClinVar Variation Id:
597410
dbSNP Id:
rs372194079
ExAC:
2:219678754 C / T
gnomAD v2:
2-219678754-C-T
gnomAD v3:
2-218814031-C-T
gnomAD v4:
2-218814031-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814031C>T , CM000664.2:g.218814031C>T | GRCh38 |
| NC_000002.11:g.219678754C>T , CM000664.1:g.219678754C>T | GRCh37 |
| NC_000002.10:g.219386998C>T | NCBI36 |
| NG_007959.1:g.37283C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1028C>T MANE Select | ENSP00000258415.4:p.Thr343Met | |
| ENST00000258415.8:c.1028C>T | ENSP00000258415.4:p.Thr343Met | |
| ENST00000445971.1:c.*489C>T | ENSP00000404945.1:n.*489C>T | |
| ENST00000466602.1:n.1150C>T | ||
| ENST00000494263.5:n.1462C>T | ||
| NM_000784.3:c.1028C>T | NP_000775.1:p.Thr343Met | |
| XM_017003488.2:c.608C>T | XP_016858977.1:p.Thr203Met | |
| NM_000784.4:c.1028C>T MANE Select | NP_000775.1:p.Thr343Met |