Linked Data
ClinVar Variation Id:
1040993
ClinVar RCV Id:
RCV001344732
dbSNP Id:
rs779425195
ExAC:
1:6537613 C / T
gnomAD v2:
1-6537613-C-T
gnomAD v3:
1-6477553-C-T
gnomAD v4:
1-6477553-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6477553C>T , CM000663.2:g.6477553C>T | GRCh38 |
| NC_000001.10:g.6537613C>T , CM000663.1:g.6537613C>T | GRCh37 |
| NC_000001.9:g.6460200C>T | NCBI36 |
| NG_007978.1:g.47457G>A , LRG_262:g.47457G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.19G>A | ENSP00000344570.5:p.Val7Ile | |
| ENST00000377728.8:c.19G>A MANE Select | ENSP00000366957.3:p.Val7Ile | |
| ENST00000377740.5:c.19G>A | ENSP00000366969.4:p.Val7Ile | |
| ENST00000377748.6:c.130G>A | ENSP00000366977.2:p.Val44Ile | |
| ENST00000400913.6:c.19G>A | ENSP00000383704.1:p.Val7Ile | |
| ENST00000400915.8:c.130G>A | ENSP00000383706.4:p.Val44Ile | |
| ENST00000489097.6:n.36G>A | ||
| ENST00000535355.6:c.226G>A | ENSP00000441445.1:p.Val76Ile | |
| ENST00000537245.6:c.130G>A | ENSP00000439625.2:p.Val44Ile | |
| ENST00000673471.2:c.316G>A | ENSP00000500749.1:p.Val106Ile | |
| ENST00000674790.1:c.*231G>A | ENSP00000502815.1:n.*231G>A | |
| ENST00000674803.1:n.249G>A | ||
| ENST00000675093.1:c.19G>A | ENSP00000502687.1:p.Val7Ile | |
| ENST00000675123.1:c.19G>A | ENSP00000502132.1:p.Val7Ile | |
| ENST00000675548.1:c.204G>A | ENSP00000502684.1:p.Met68Ile | |
| ENST00000675655.1:n.225G>A | ||
| ENST00000675694.1:c.19G>A | ENSP00000501925.1:p.Val7Ile | |
| ENST00000676287.1:c.19G>A | ENSP00000502810.1:p.Val7Ile | |
| ENST00000676362.1:n.242G>A | ||
| ENST00000340850.9:c.19G>A | ENSP00000344570.5:p.Val7Ile | |
| ENST00000377725.5:c.19G>A | ENSP00000366954.1:p.Val7Ile | |
| ENST00000377728.7:c.19G>A | ENSP00000366957.3:p.Val7Ile | |
| ENST00000377732.5:c.130G>A | ENSP00000366961.1:p.Val44Ile | |
| ENST00000377740.4:c.250G>A | ENSP00000366969.3:p.Val84Ile | |
| ENST00000377748.5:c.250G>A | ENSP00000366977.1:p.Val84Ile | |
| ENST00000400913.5:c.19G>A | ENSP00000383704.1:p.Val7Ile | |
| ENST00000400915.7:c.187G>A | ENSP00000383706.3:p.Val63Ile | |
| ENST00000489097.5:n.36G>A | ||
| ENST00000535355.5:c.226G>A | ENSP00000441445.1:p.Val76Ile | |
| ENST00000537245.5:c.256G>A | ENSP00000439625.1:p.Val86Ile | |
| NM_001042663.1:c.187G>A | NP_001036128.1:p.Val63Ile | |
| NM_001042664.1:c.19G>A | NP_001036129.1:p.Val7Ile | |
| NM_001042665.1:c.19G>A | NP_001036130.1:p.Val7Ile | |
| NM_001265592.1:c.256G>A | NP_001252521.1:p.Val86Ile | |
| NM_001265593.1:c.226G>A | NP_001252522.1:p.Val76Ile | |
| NM_001265594.1:c.19G>A | NP_001252523.1:p.Val7Ile | |
| NM_020631.4:c.19G>A | NP_065682.2:p.Val7Ile | |
| NM_198681.3:c.250G>A | NP_941374.2:p.Val84Ile | |
| NM_001042663.2:c.187G>A | NP_001036128.1:p.Val63Ile | |
| NM_001265594.2:c.19G>A | NP_001252523.1:p.Val7Ile | |
| NM_020631.5:c.19G>A | NP_065682.2:p.Val7Ile | |
| NM_001042663.3:c.130G>A | NP_001036128.2:p.Val44Ile | |
| NM_001265592.2:c.130G>A | NP_001252521.2:p.Val44Ile | |
| NM_020631.6:c.19G>A MANE Select | NP_065682.2:p.Val7Ile | |
| NM_198681.4:c.19G>A | NP_941374.3:p.Val7Ile |