Linked Data
ClinVar Variation Id:
1766361
ClinVar RCV Id:
RCV002371410
dbSNP Id:
rs149389101
ExAC:
16:67974205 G / C
gnomAD v2:
16-67974205-G-C
gnomAD v3:
16-67940302-G-C
gnomAD v4:
16-67940302-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940302G>C , CM000678.2:g.67940302G>C | GRCh38 |
| NC_000016.9:g.67974205G>C , CM000678.1:g.67974205G>C | GRCh37 |
| NC_000016.8:g.66531706G>C | NCBI36 |
| NG_009778.1:g.8811C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.925C>G MANE Select | ENSP00000264005.5:p.Leu309Val | |
| ENST00000264005.9:c.925C>G | ENSP00000264005.5:p.Leu309Val | |
| ENST00000570369.5:c.156-228C>G | ||
| ENST00000570980.1:c.709C>G | ENSP00000464651.1:p.Leu237Val | |
| ENST00000573538.5:c.663C>G | ENSP00000463220.1:n.663C>G | |
| NM_000229.1:c.925C>G | NP_000220.1:p.Leu309Val | |
| NM_000229.2:c.925C>G MANE Select | NP_000220.1:p.Leu309Val |