Linked Data
ClinVar Variation Id:
285421
ClinVar RCV Id:
RCV000341192
dbSNP Id:
rs143377523
gnomAD v2:
2-219678745-C-T
gnomAD v4:
2-218814022-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814022C>T , CM000664.2:g.218814022C>T | GRCh38 |
| NC_000002.11:g.219678745C>T , CM000664.1:g.219678745C>T | GRCh37 |
| NC_000002.10:g.219386989C>T | NCBI36 |
| NG_007959.1:g.37274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1019C>T MANE Select | ENSP00000258415.4:p.Thr340Ile | |
| ENST00000258415.8:c.1019C>T | ENSP00000258415.4:p.Thr340Ile | |
| ENST00000445971.1:c.*480C>T | ENSP00000404945.1:n.*480C>T | |
| ENST00000466602.1:n.1141C>T | ||
| ENST00000494263.5:n.1453C>T | ||
| NM_000784.3:c.1019C>T | NP_000775.1:p.Thr340Ile | |
| XM_017003488.2:c.599C>T | XP_016858977.1:p.Thr200Ile | |
| NM_000784.4:c.1019C>T MANE Select | NP_000775.1:p.Thr340Ile |