Linked Data
dbSNP Id:
rs761486844
ExAC:
11:67800592 C / G
gnomAD v2:
11-67800592-C-G
gnomAD v4:
11-68033125-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68033125C>G , CM000673.2:g.68033125C>G | GRCh38 |
| NC_000011.9:g.67800592C>G , CM000673.1:g.67800592C>G | GRCh37 |
| NC_000011.8:g.67557168C>G | NCBI36 |
| NG_017040.1:g.7509C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.214C>G MANE Select | ENSP00000315774.5:p.Leu72Val | |
| ENST00000313468.9:c.214C>G | ENSP00000315774.5:p.Leu72Val | |
| ENST00000432321.6:n.331C>G | ||
| ENST00000453471.6:c.214C>G | ENSP00000403972.2:p.Leu72Val | |
| ENST00000525419.5:c.160C>G | ENSP00000433521.1:p.Leu54Val | |
| ENST00000525628.1:c.214C>G | ENSP00000432968.1:p.Leu72Val | |
| ENST00000526339.5:c.214C>G | ENSP00000436287.1:p.Leu72Val | |
| ENST00000526446.5:c.*269C>G | ENSP00000433645.1:n.*269C>G | |
| ENST00000528492.1:c.-67+2392C>G | ENSP00000432848.1:n.-67+2392C>G | |
| ENST00000529645.1:c.392C>G | ENSP00000431293.1:n.392C>G | |
| ENST00000531228.1:c.*56C>G | ENSP00000433054.1:n.*56C>G | |
| ENST00000532399.1:n.919C>G | ||
| NM_002496.3:c.214C>G | NP_002487.1:p.Leu72Val | |
| XM_005274013.1:c.214C>G | XP_005274070.1:p.Leu72Val | |
| XM_005274014.1:c.214C>G | XP_005274071.1:p.Leu72Val | |
| XM_005274015.1:c.94C>G | XP_005274072.1:p.Leu32Val | |
| XM_011545053.1:c.214C>G | XP_011543355.1:p.Leu72Val | |
| NM_002496.4:c.214C>G MANE Select | NP_002487.1:p.Leu72Val |