Linked Data
ClinVar Variation Id:
960635
ClinVar RCV Id:
RCV001234194
dbSNP Id:
rs966434923
gnomAD v2:
1-94508898-G-T
gnomAD v3:
1-94043342-G-T
gnomAD v4:
1-94043342-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043342G>T , CM000663.2:g.94043342G>T | GRCh38 |
| NC_000001.10:g.94508898G>T , CM000663.1:g.94508898G>T | GRCh37 |
| NC_000001.9:g.94281486G>T | NCBI36 |
| NG_009073.1:g.82808C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3184C>A MANE Select | ENSP00000359245.3:p.Leu1062Ile | |
| ENST00000370225.3:c.3184C>A | ENSP00000359245.3:p.Leu1062Ile | |
| ENST00000536513.5:c.-64-3253C>A | ENSP00000439707.2:n.-64-3253C>A | |
| NM_000350.2:c.3184C>A | NP_000341.2:p.Leu1062Ile | |
| NM_000350.3:c.3184C>A MANE Select | NP_000341.2:p.Leu1062Ile |