Linked Data
ClinVar Variation Id:
1351326
ClinVar RCV Id:
RCV002044640
dbSNP Id:
rs2112815982
gnomAD v4:
5-80675037-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80675037C>T , CM000667.2:g.80675037C>T | GRCh38 |
| NC_000005.9:g.79970856C>T , CM000667.1:g.79970856C>T | GRCh37 |
| NC_000005.8:g.80006612C>T | NCBI36 |
| NG_016607.1:g.25563C>T | |
| NG_016607.2:g.25563C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1082C>T MANE Select | ENSP00000265081.6:p.Thr361Ile | |
| ENST00000658259.1:c.914C>T | ENSP00000499617.1:p.Thr305Ile | |
| ENST00000667069.1:c.1082C>T | ENSP00000499502.1:p.Thr361Ile | |
| ENST00000670357.1:c.1082C>T | ENSP00000499791.1:p.Thr361Ile | |
| ENST00000265081.6:c.1082C>T | ENSP00000265081.6:p.Thr361Ile | |
| NM_002439.4:c.1082C>T | NP_002430.3:p.Thr361Ile | |
| NM_002439.5:c.1082C>T MANE Select | NP_002430.3:p.Thr361Ile |