Linked Data
ClinVar Variation Id:
298242
ClinVar RCV Id:
RCV000297155
RCV000337011
RCV000354394
RCV000392768
RCV000909683
RCV001099859
RCV001699431
dbSNP Id:
rs141004967
ExAC:
1:94497412 C / G
gnomAD v2:
1-94497412-C-G
gnomAD v3:
1-94031856-C-G
gnomAD v4:
1-94031856-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94031856C>G , CM000663.2:g.94031856C>G | GRCh38 |
| NC_000001.10:g.94497412C>G , CM000663.1:g.94497412C>G | GRCh37 |
| NC_000001.9:g.94270000C>G | NCBI36 |
| NG_009073.1:g.94294G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4050G>C MANE Select | ENSP00000359245.3:p.Leu1350= | |
| ENST00000370225.3:c.4050G>C | ENSP00000359245.3:p.Leu1350= | |
| ENST00000536513.5:c.426G>C | ENSP00000439707.2:p.Leu142= | |
| NM_000350.2:c.4050G>C | NP_000341.2:p.Leu1350= | |
| NM_000350.3:c.4050G>C MANE Select | NP_000341.2:p.Leu1350= |