Linked Data
dbSNP Id:
rs1321668376
gnomAD v2:
11-61161412-C-G
gnomAD v3:
11-61393940-C-G
gnomAD v4:
11-61393940-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61393940C>G , CM000673.2:g.61393940C>G | GRCh38 |
| NC_000011.9:g.61161412C>G , CM000673.1:g.61161412C>G | GRCh37 |
| NC_000011.8:g.60917988C>G | NCBI36 |
| NG_032976.1:g.6581C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.10:c.193C>G | ENSP00000334844.5:p.Leu65Val | |
| ENST00000544795.6:n.470C>G | ||
| ENST00000684926.1:n.209C>G | ||
| ENST00000688959.1:c.-67C>G | ENSP00000509213.1:n.-67C>G | |
| ENST00000690736.1:c.193C>G | ENSP00000508542.1:p.Leu65Val | |
| ENST00000515837.7:c.193C>G MANE Select | ENSP00000440638.1:p.Leu65Val | |
| ENST00000334888.9:c.193C>G | ENSP00000334844.5:p.Leu65Val | |
| ENST00000398979.7:c.10C>G | ENSP00000381950.3:p.Leu4Val | |
| ENST00000515837.6:c.193C>G | ENSP00000440638.1:p.Leu65Val | |
| ENST00000541473.1:n.207C>G | ||
| ENST00000544795.5:n.209C>G | ||
| NM_001173990.2:c.193C>G | NP_001167461.1:p.Leu65Val | |
| NM_001173991.2:c.193C>G | NP_001167462.1:p.Leu65Val | |
| NM_016499.5:c.10C>G | NP_057583.2:p.Leu4Val | |
| XM_005274039.3:c.10C>G | XP_005274096.1:p.Leu4Val | |
| NM_001330285.1:c.10C>G | NP_001317214.1:p.Leu4Val | |
| XM_005274039.4:c.10C>G | XP_005274096.1:p.Leu4Val | |
| NM_001173990.3:c.193C>G MANE Select | NP_001167461.1:p.Leu65Val | |
| NM_001173991.3:c.193C>G | NP_001167462.1:p.Leu65Val | |
| NM_001330285.2:c.10C>G | NP_001317214.1:p.Leu4Val | |
| NM_016499.6:c.10C>G | NP_057583.2:p.Leu4Val |