Linked Data
ClinVar Variation Id:
297978
dbSNP Id:
rs144859183
ExAC:
1:6537599 A / G
gnomAD v2:
1-6537599-A-G
gnomAD v3:
1-6477539-A-G
gnomAD v4:
1-6477539-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6477539A>G , CM000663.2:g.6477539A>G | GRCh38 |
| NC_000001.10:g.6537599A>G , CM000663.1:g.6537599A>G | GRCh37 |
| NC_000001.9:g.6460186A>G | NCBI36 |
| NG_007978.1:g.47471T>C , LRG_262:g.47471T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.33T>C | ENSP00000344570.5:p.Leu11= | |
| ENST00000377728.8:c.33T>C MANE Select | ENSP00000366957.3:p.Leu11= | |
| ENST00000377740.5:c.33T>C | ENSP00000366969.4:p.Leu11= | |
| ENST00000377748.6:c.144T>C | ENSP00000366977.2:p.Leu48= | |
| ENST00000400913.6:c.33T>C | ENSP00000383704.1:p.Leu11= | |
| ENST00000400915.8:c.144T>C | ENSP00000383706.4:p.Leu48= | |
| ENST00000489097.6:n.50T>C | ||
| ENST00000535355.6:c.240T>C | ENSP00000441445.1:p.Leu80= | |
| ENST00000537245.6:c.144T>C | ENSP00000439625.2:p.Leu48= | |
| ENST00000673471.2:c.330T>C | ENSP00000500749.1:p.Leu110= | |
| ENST00000674790.1:c.*245T>C | ENSP00000502815.1:n.*245T>C | |
| ENST00000674803.1:n.263T>C | ||
| ENST00000675093.1:c.33T>C | ENSP00000502687.1:p.Leu11= | |
| ENST00000675123.1:c.33T>C | ENSP00000502132.1:p.Leu11= | |
| ENST00000675548.1:c.218T>C | ENSP00000502684.1:p.Phe73Ser | |
| ENST00000675655.1:n.239T>C | ||
| ENST00000675694.1:c.33T>C | ENSP00000501925.1:p.Leu11= | |
| ENST00000676287.1:c.33T>C | ENSP00000502810.1:p.Leu11= | |
| ENST00000676362.1:n.256T>C | ||
| ENST00000340850.9:c.33T>C | ENSP00000344570.5:p.Leu11= | |
| ENST00000377725.5:c.33T>C | ENSP00000366954.1:p.Leu11= | |
| ENST00000377728.7:c.33T>C | ENSP00000366957.3:p.Leu11= | |
| ENST00000377732.5:c.144T>C | ENSP00000366961.1:p.Leu48= | |
| ENST00000377740.4:c.264T>C | ENSP00000366969.3:p.Leu88= | |
| ENST00000377748.5:c.264T>C | ENSP00000366977.1:p.Leu88= | |
| ENST00000400913.5:c.33T>C | ENSP00000383704.1:p.Leu11= | |
| ENST00000400915.7:c.201T>C | ENSP00000383706.3:p.Leu67= | |
| ENST00000489097.5:n.50T>C | ||
| ENST00000535355.5:c.240T>C | ENSP00000441445.1:p.Leu80= | |
| ENST00000537245.5:c.270T>C | ENSP00000439625.1:p.Leu90= | |
| NM_001042663.1:c.201T>C | NP_001036128.1:p.Leu67= | |
| NM_001042664.1:c.33T>C | NP_001036129.1:p.Leu11= | |
| NM_001042665.1:c.33T>C | NP_001036130.1:p.Leu11= | |
| NM_001265592.1:c.270T>C | NP_001252521.1:p.Leu90= | |
| NM_001265593.1:c.240T>C | NP_001252522.1:p.Leu80= | |
| NM_001265594.1:c.33T>C | NP_001252523.1:p.Leu11= | |
| NM_020631.4:c.33T>C | NP_065682.2:p.Leu11= | |
| NM_198681.3:c.264T>C | NP_941374.2:p.Leu88= | |
| NM_001042663.2:c.201T>C | NP_001036128.1:p.Leu67= | |
| NM_001265594.2:c.33T>C | NP_001252523.1:p.Leu11= | |
| NM_020631.5:c.33T>C | NP_065682.2:p.Leu11= | |
| NM_001042663.3:c.144T>C | NP_001036128.2:p.Leu48= | |
| NM_001265592.2:c.144T>C | NP_001252521.2:p.Leu48= | |
| NM_020631.6:c.33T>C MANE Select | NP_065682.2:p.Leu11= | |
| NM_198681.4:c.33T>C | NP_941374.3:p.Leu11= |