Linked Data
ClinVar Variation Id:
1658090
ClinVar RCV Id:
RCV002171759
dbSNP Id:
rs774598114
ExAC:
1:94512509 G / A
gnomAD v2:
1-94512509-G-A
gnomAD v3:
1-94046953-G-A
gnomAD v4:
1-94046953-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94046953G>A , CM000663.2:g.94046953G>A | GRCh38 |
| NC_000001.10:g.94512509G>A , CM000663.1:g.94512509G>A | GRCh37 |
| NC_000001.9:g.94285097G>A | NCBI36 |
| NG_009073.1:g.79197C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.2884C>T MANE Select | ENSP00000359245.3:p.Leu962= | |
| ENST00000649773.1:c.2662C>T | ENSP00000496882.1:p.Leu888= | |
| ENST00000370225.3:c.2884C>T | ENSP00000359245.3:p.Leu962= | |
| ENST00000536513.5:c.-64-6864C>T | ENSP00000439707.2:n.-64-6864C>T | |
| NM_000350.2:c.2884C>T | NP_000341.2:p.Leu962= | |
| NM_000350.3:c.2884C>T MANE Select | NP_000341.2:p.Leu962= |