Linked Data
ClinVar Variation Id:
262966
dbSNP Id:
rs79353057
ExAC:
3:180349359 T / C
gnomAD v2:
3-180349359-T-C
gnomAD v3:
3-180631571-T-C
gnomAD v4:
3-180631571-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180631571T>C , CM000665.2:g.180631571T>C | GRCh38 |
| NC_000003.11:g.180349359T>C , CM000665.1:g.180349359T>C | GRCh37 |
| NC_000003.10:g.181832053T>C | NCBI36 |
| NG_029581.1:g.52925A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.1896A>G MANE Select | ENSP00000417960.2:p.Leu632= | |
| ENST00000650641.1:n.1783A>G | ||
| ENST00000651046.1:c.1704A>G | ENSP00000499175.1:p.Leu568= | |
| ENST00000651922.1:n.1221A>G | ||
| ENST00000652408.1:n.2033A>G | ||
| ENST00000442201.6:c.1896A>G | ENSP00000405708.2:p.Leu632= | |
| ENST00000476379.5:c.1896A>G | ENSP00000417960.1:p.Leu632= | |
| NM_181426.1:c.1896A>G | NP_852091.1:p.Leu632= | |
| NM_181426.2:c.1896A>G MANE Select | NP_852091.1:p.Leu632= |