Linked Data
ClinVar Variation Id:
513720
ClinVar RCV Id:
RCV000616877
dbSNP Id:
rs1555016641
gnomAD v4:
11-66347351-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66347351G>A , CM000673.2:g.66347351G>A | GRCh38 |
| NC_000011.9:g.66114822G>A , CM000673.1:g.66114822G>A | GRCh37 |
| NC_000011.8:g.65871398G>A | NCBI36 |
| NG_033202.1:g.5340C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311181.5:c.195C>T MANE Select | ENSP00000309096.4:p.Thr65= | |
| ENST00000311181.4:c.195C>T | ENSP00000309096.4:p.Thr65= | |
| NM_006876.2:c.195C>T | NP_006867.1:p.Thr65= | |
| NM_006876.3:c.195C>T MANE Select | NP_006867.1:p.Thr65= |