Linked Data
ClinVar Variation Id:
581341
ClinVar RCV Id:
RCV000705136
dbSNP Id:
rs141032388
gnomAD v4:
1-6474583-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6474583C>A , CM000663.2:g.6474583C>A | GRCh38 |
| NC_000001.10:g.6534643C>A , CM000663.1:g.6534643C>A | GRCh37 |
| NC_000001.9:g.6457230C>A | NCBI36 |
| NG_007978.1:g.50427G>T , LRG_262:g.50427G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.307G>T | ENSP00000344570.5:p.Val103Leu | |
| ENST00000377728.8:c.307G>T MANE Select | ENSP00000366957.3:p.Val103Leu | |
| ENST00000377740.5:c.307G>T | ENSP00000366969.4:p.Val103Leu | |
| ENST00000377748.6:c.481G>T | ENSP00000366977.2:p.Val161Leu | |
| ENST00000400913.6:c.307G>T | ENSP00000383704.1:p.Val103Leu | |
| ENST00000400915.8:c.418G>T | ENSP00000383706.4:p.Val140Leu | |
| ENST00000489097.6:n.783G>T | ||
| ENST00000535355.6:c.514G>T | ENSP00000441445.1:p.Val172Leu | |
| ENST00000537245.6:c.418G>T | ENSP00000439625.2:p.Val140Leu | |
| ENST00000673471.2:c.604G>T | ENSP00000500749.1:p.Val202Leu | |
| ENST00000674790.1:c.*519G>T | ENSP00000502815.1:n.*519G>T | |
| ENST00000675093.1:c.307G>T | ENSP00000502687.1:p.Val103Leu | |
| ENST00000675123.1:c.307G>T | ENSP00000502132.1:p.Val103Leu | |
| ENST00000675548.1:c.*135G>T | ENSP00000502684.1:n.*135G>T | |
| ENST00000675694.1:c.307G>T | ENSP00000501925.1:p.Val103Leu | |
| ENST00000676255.1:c.269G>T | ENSP00000502459.1:n.269G>T | |
| ENST00000676287.1:c.307G>T | ENSP00000502810.1:p.Val103Leu | |
| ENST00000340850.9:c.307G>T | ENSP00000344570.5:p.Val103Leu | |
| ENST00000377725.5:c.307G>T | ENSP00000366954.1:p.Val103Leu | |
| ENST00000377728.7:c.307G>T | ENSP00000366957.3:p.Val103Leu | |
| ENST00000377732.5:c.418G>T | ENSP00000366961.1:p.Val140Leu | |
| ENST00000377740.4:c.538G>T | ENSP00000366969.3:p.Val180Leu | |
| ENST00000377748.5:c.538G>T | ENSP00000366977.1:p.Val180Leu | |
| ENST00000400913.5:c.307G>T | ENSP00000383704.1:p.Val103Leu | |
| ENST00000400915.7:c.475G>T | ENSP00000383706.3:p.Val159Leu | |
| ENST00000489097.5:n.783G>T | ||
| ENST00000535355.5:c.514G>T | ENSP00000441445.1:p.Val172Leu | |
| ENST00000537245.5:c.544G>T | ENSP00000439625.1:p.Val182Leu | |
| NM_001042663.1:c.475G>T | NP_001036128.1:p.Val159Leu | |
| NM_001042664.1:c.307G>T | NP_001036129.1:p.Val103Leu | |
| NM_001042665.1:c.307G>T | NP_001036130.1:p.Val103Leu | |
| NM_001265592.1:c.544G>T | NP_001252521.1:p.Val182Leu | |
| NM_001265593.1:c.514G>T | NP_001252522.1:p.Val172Leu | |
| NM_001265594.1:c.307G>T | NP_001252523.1:p.Val103Leu | |
| NM_020631.4:c.307G>T | NP_065682.2:p.Val103Leu | |
| NM_198681.3:c.538G>T | NP_941374.2:p.Val180Leu | |
| NM_001042663.2:c.475G>T | NP_001036128.1:p.Val159Leu | |
| NM_001265594.2:c.307G>T | NP_001252523.1:p.Val103Leu | |
| NM_020631.5:c.307G>T | NP_065682.2:p.Val103Leu | |
| NM_001042663.3:c.418G>T | NP_001036128.2:p.Val140Leu | |
| NM_001265592.2:c.418G>T | NP_001252521.2:p.Val140Leu | |
| NM_020631.6:c.307G>T MANE Select | NP_065682.2:p.Val103Leu | |
| NM_198681.4:c.307G>T | NP_941374.3:p.Val103Leu |