Linked Data
ClinVar Variation Id:
2869409
ClinVar RCV Id:
RCV003705547
dbSNP Id:
rs749474595
ExAC:
5:145719239 G / A
gnomAD v2:
5-145719239-G-A
gnomAD v4:
5-146339676-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339676G>A , CM000667.2:g.146339676G>A | GRCh38 |
| NC_000005.9:g.145719239G>A , CM000667.1:g.145719239G>A | GRCh37 |
| NC_000005.8:g.145699432G>A | NCBI36 |
| NG_011885.1:g.5653G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.249G>A MANE Select | ENSP00000495718.1:p.Met83Ile | |
| ENST00000230732.4:c.249G>A | ENSP00000230732.4:p.Met83Ile | |
| NM_002700.2:c.249G>A | NP_002691.1:p.Met83Ile | |
| NM_002700.3:c.249G>A MANE Select | NP_002691.1:p.Met83Ile |