Linked Data
ClinVar Variation Id:
501139
dbSNP Id:
rs149101812
ExAC:
2:219647053 G / A
gnomAD v2:
2-219647053-G-A
gnomAD v3:
2-218782330-G-A
gnomAD v4:
2-218782330-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218782330G>A , CM000664.2:g.218782330G>A | GRCh38 |
| NC_000002.11:g.219647053G>A , CM000664.1:g.219647053G>A | GRCh37 |
| NC_000002.10:g.219355297G>A | NCBI36 |
| NG_007959.1:g.5582G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.148G>A MANE Select | ENSP00000258415.4:p.Val50Ile | |
| ENST00000258415.8:c.148G>A | ENSP00000258415.4:p.Val50Ile | |
| ENST00000445971.1:c.148G>A | ENSP00000404945.1:p.Val50Ile | |
| ENST00000466602.1:n.157G>A | ||
| ENST00000494263.5:n.582G>A | ||
| NM_000784.3:c.148G>A | NP_000775.1:p.Val50Ile | |
| XM_017003488.2:c.-82G>A | XP_016858977.1:n.-82G>A | |
| NM_000784.4:c.148G>A MANE Select | NP_000775.1:p.Val50Ile |