Linked Data
ClinVar Variation Id:
528492
dbSNP Id:
rs138189735
ExAC:
2:219647120 T / A
gnomAD v2:
2-219647120-T-A
gnomAD v3:
2-218782397-T-A
gnomAD v4:
2-218782397-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218782397T>A , CM000664.2:g.218782397T>A | GRCh38 |
| NC_000002.11:g.219647120T>A , CM000664.1:g.219647120T>A | GRCh37 |
| NC_000002.10:g.219355364T>A | NCBI36 |
| NG_007959.1:g.5649T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258415.9:c.215T>A MANE Select | ENSP00000258415.4:p.Leu72Gln | |
| ENST00000258415.8:c.215T>A | ENSP00000258415.4:p.Leu72Gln | |
| ENST00000445971.1:c.215T>A | ENSP00000404945.1:p.Leu72Gln | |
| ENST00000466602.1:n.224T>A | ||
| ENST00000494263.5:n.649T>A | ||
| NM_000784.3:c.215T>A | NP_000775.1:p.Leu72Gln | |
| XM_017003488.2:c.-15T>A | XP_016858977.1:n.-15T>A | |
| NM_000784.4:c.215T>A MANE Select | NP_000775.1:p.Leu72Gln |