Linked Data
ClinVar Variation Id:
99391
ClinVar RCV Id:
RCV000085745
dbSNP Id:
rs62642577
gnomAD v4:
1-94010870-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94010870T>C , CM000663.2:g.94010870T>C | GRCh38 |
| NC_000001.10:g.94476426T>C , CM000663.1:g.94476426T>C | GRCh37 |
| NC_000001.9:g.94249014T>C | NCBI36 |
| NG_009073.1:g.115280A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.5644A>G MANE Select | ENSP00000359245.3:p.Met1882Val | |
| ENST00000370225.3:c.5644A>G | ENSP00000359245.3:p.Met1882Val | |
| ENST00000465352.1:n.60A>G | ||
| ENST00000536513.5:c.2020A>G | ENSP00000439707.2:p.Met674Val | |
| NM_000350.2:c.5644A>G | NP_000341.2:p.Met1882Val | |
| NM_000350.3:c.5644A>G MANE Select | NP_000341.2:p.Met1882Val |