Linked Data
ClinVar Variation Id:
566585
dbSNP Id:
rs146965678
ExAC:
2:96919698 G / C
gnomAD v2:
2-96919698-G-C
gnomAD v3:
2-96253960-G-C
gnomAD v4:
2-96253960-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96253960G>C , CM000664.2:g.96253960G>C | GRCh38 |
| NC_000002.11:g.96919698G>C , CM000664.1:g.96919698G>C | GRCh37 |
| NC_000002.10:g.96283425G>C | NCBI36 |
| NG_027695.1:g.17054C>G , LRG_528:g.17054C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.565C>G MANE Select | ENSP00000258439.3:p.Leu189Val | |
| ENST00000258439.7:c.565C>G | ENSP00000258439.2:p.Leu189Val | |
| ENST00000432959.1:c.565C>G | ENSP00000416660.1:p.Leu189Val | |
| ENST00000435268.1:c.313C>G | ENSP00000411810.1:p.Leu105Val | |
| NM_001193304.2:c.565C>G | NP_001180233.1:p.Leu189Val | |
| NM_017849.3:c.565C>G , LRG_528t1:c.565C>G | NP_060319.1:p.Leu189Val | |
| XM_017004450.1:c.-354C>G | XP_016859939.1:n.-354C>G | |
| XM_017004452.1:c.313C>G | XP_016859941.1:p.Leu105Val | |
| NM_001193304.3:c.565C>G | NP_001180233.1:p.Leu189Val | |
| NM_017849.4:c.565C>G MANE Select | NP_060319.1:p.Leu189Val |