Linked Data
dbSNP Id:
rs1486445115
gnomAD v2:
1-180772610-G-A
gnomAD v3:
1-180803474-G-A
gnomAD v4:
1-180803474-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180803474G>A , CM000663.2:g.180803474G>A | GRCh38 |
| NC_000001.10:g.180772610G>A , CM000663.1:g.180772610G>A | GRCh37 |
| NC_000001.9:g.179039233G>A | NCBI36 |
| NG_050964.1:g.176465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367590.9:c.310G>A MANE Select | ENSP00000356562.4:p.Val104Ile | |
| ENST00000367589.3:c.310G>A | ENSP00000356561.3:p.Val104Ile | |
| ENST00000367590.8:c.310G>A | ENSP00000356562.4:p.Val104Ile | |
| NM_001135669.1:c.310G>A | NP_001129141.1:p.Val104Ile | |
| NM_004736.3:c.310G>A | NP_004727.2:p.Val104Ile | |
| NM_001328662.1:c.310G>A | NP_001315591.1:p.Val104Ile | |
| NR_137330.1:n.502G>A | ||
| NM_001135669.2:c.310G>A | NP_001129141.1:p.Val104Ile | |
| NM_001328662.2:c.310G>A | NP_001315591.1:p.Val104Ile | |
| NM_004736.4:c.310G>A MANE Select | NP_004727.2:p.Val104Ile | |
| NR_137330.2:n.490G>A |