Linked Data
ClinVar Variation Id:
2148199
ClinVar RCV Id:
RCV003063275
dbSNP Id:
rs745546656
gnomAD v4:
8-86739684-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739684G>A , CM000670.2:g.86739684G>A | GRCh38 |
| NC_000008.10:g.87751912G>A , CM000670.1:g.87751912G>A | GRCh37 |
| NC_000008.9:g.87821028G>A | NCBI36 |
| NG_016980.1:g.8992C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.182C>T MANE Select | ENSP00000316605.5:p.Thr61Met | |
| ENST00000681746.1:c.182C>T | ENSP00000505959.1:p.Thr61Met | |
| ENST00000320005.5:c.182C>T | ENSP00000316605.5:p.Thr61Met | |
| ENST00000519777.1:n.164C>T | ||
| NM_019098.4:c.182C>T | NP_061971.3:p.Thr61Met | |
| NM_019098.5:c.182C>T MANE Select | NP_061971.3:p.Thr61Met |