Linked Data
ClinVar Variation Id:
164980
ClinVar RCV Id:
RCV000151673
dbSNP Id:
rs113137300
gnomAD v4:
5-146339805-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339805G>T , CM000667.2:g.146339805G>T | GRCh38 |
| NC_000005.9:g.145719368G>T , CM000667.1:g.145719368G>T | GRCh37 |
| NC_000005.8:g.145699561G>T | NCBI36 |
| NG_011885.1:g.5782G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.378G>T MANE Select | ENSP00000495718.1:p.Thr126= | |
| ENST00000230732.4:c.378G>T | ENSP00000230732.4:p.Thr126= | |
| NM_002700.2:c.378G>T | NP_002691.1:p.Thr126= | |
| NM_002700.3:c.378G>T MANE Select | NP_002691.1:p.Thr126= |