Linked Data
ClinVar Variation Id:
1464837
ClinVar RCV Id:
RCV001979222
dbSNP Id:
rs757764014
ExAC:
8:77895679 G / C
gnomAD v2:
8-77895679-G-C
gnomAD v4:
8-76983443-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983443G>C , CM000670.2:g.76983443G>C | GRCh38 |
| NC_000008.10:g.77895679G>C , CM000670.1:g.77895679G>C | GRCh37 |
| NC_000008.9:g.78058234G>C | NCBI36 |
| NG_008371.1:g.21846C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357039.9:c.736C>G MANE Select | ENSP00000349543.4:p.Leu246Val | |
| ENST00000357039.8:c.736C>G | ENSP00000349543.4:p.Leu246Val | |
| ENST00000520103.5:c.736C>G | ENSP00000428590.1:p.Leu246Val | |
| ENST00000522527.5:c.736C>G | ENSP00000428638.1:p.Leu246Val | |
| NM_000318.2:c.736C>G | NP_000309.1:p.Leu246Val | |
| NM_001079867.1:c.736C>G | NP_001073336.1:p.Leu246Val | |
| NM_001172086.1:c.736C>G | NP_001165557.1:p.Leu246Val | |
| NM_001172087.1:c.736C>G | NP_001165558.1:p.Leu246Val | |
| NM_000318.3:c.736C>G MANE Select | NP_000309.2:p.Leu246Val | |
| NM_001079867.2:c.736C>G | NP_001073336.2:p.Leu246Val | |
| NM_001172086.2:c.736C>G | NP_001165557.2:p.Leu246Val | |
| NM_001172087.2:c.736C>G | NP_001165558.2:p.Leu246Val |