Linked Data
ClinVar Variation Id:
2816888
ClinVar RCV Id:
RCV003711008
dbSNP Id:
rs1192500569
gnomAD v2:
1-94476854-G-A
gnomAD v4:
1-94011298-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94011298G>A , CM000663.2:g.94011298G>A | GRCh38 |
| NC_000001.10:g.94476854G>A , CM000663.1:g.94476854G>A | GRCh37 |
| NC_000001.9:g.94249442G>A | NCBI36 |
| NG_009073.1:g.114852C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5548C>T MANE Select | ENSP00000359245.3:p.Leu1850= | |
| ENST00000370225.3:c.5548C>T | ENSP00000359245.3:p.Leu1850= | |
| ENST00000536513.5:c.1924C>T | ENSP00000439707.2:p.Leu642= | |
| NM_000350.2:c.5548C>T | NP_000341.2:p.Leu1850= | |
| NM_000350.3:c.5548C>T MANE Select | NP_000341.2:p.Leu1850= |