Linked Data
ClinVar Variation Id:
1755335
dbSNP Id:
rs765294583
ExAC:
11:67257817 C / G
gnomAD v2:
11-67257817-C-G
gnomAD v4:
11-67490346-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490346C>G , CM000673.2:g.67490346C>G | GRCh38 |
| NC_000011.9:g.67257817C>G , CM000673.1:g.67257817C>G | GRCh37 |
| NC_000011.8:g.67014393C>G | NCBI36 |
| NG_008969.1:g.12313C>G , LRG_460:g.12313C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.653C>G | ||
| ENST00000528641.7:c.487C>G | ENSP00000434982.3:p.Leu163Val | |
| ENST00000529797.2:n.1188C>G | ||
| ENST00000682324.1:c.469-651C>G | ENSP00000508017.1:n.469-651C>G | |
| ENST00000682659.1:c.307C>G | ENSP00000507351.1:p.Leu103Val | |
| ENST00000682699.1:c.676C>G | ENSP00000507935.1:p.Leu226Val | |
| ENST00000683237.1:c.676C>G | ENSP00000507343.1:p.Leu226Val | |
| ENST00000683856.1:c.499C>G | ENSP00000507979.1:p.Leu167Val | |
| ENST00000684006.1:c.676C>G | ENSP00000507269.1:p.Leu226Val | |
| ENST00000684657.1:c.496C>G | ENSP00000507961.1:p.Leu166Val | |
| ENST00000279146.8:c.676C>G MANE Select | ENSP00000279146.3:p.Leu226Val | |
| ENST00000279146.7:c.676C>G | ENSP00000279146.3:p.Leu226Val | |
| ENST00000525341.1:c.328C>G | ENSP00000476993.1:p.Leu110Val | |
| ENST00000528641.6:c.487C>G | ENSP00000434982.2:p.Leu163Val | |
| NM_001302959.1:c.499C>G | NP_001289888.1:p.Leu167Val | |
| NM_001302960.1:c.676C>G | NP_001289889.1:p.Leu226Val | |
| NM_003977.3:c.676C>G | NP_003968.3:p.Leu226Val | |
| XM_024448761.1:c.676C>G | XP_024304529.1:p.Leu226Val | |
| NM_003977.4:c.676C>G MANE Select | NP_003968.3:p.Leu226Val | |
| NM_001302960.2:c.676C>G | NP_001289889.1:p.Leu226Val | |
| NM_001302959.2:c.499C>G | NP_001289888.1:p.Leu167Val |