Linked Data
ClinVar Variation Id:
435611
dbSNP Id:
rs750869480
ExAC:
10:94392425 G / A
gnomAD v2:
10-94392425-G-A
gnomAD v3:
10-92632668-G-A
gnomAD v4:
10-92632668-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92632668G>A , CM000672.2:g.92632668G>A | GRCh38 |
| NC_000010.10:g.94392425G>A , CM000672.1:g.94392425G>A | GRCh37 |
| NC_000010.9:g.94382405G>A | NCBI36 |
| NG_032580.1:g.44601G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.1677G>A MANE Select | ENSP00000260731.3:p.Met559Ile | |
| ENST00000676621.1:c.*195G>A | ENSP00000503639.1:n.*195G>A | |
| ENST00000676647.1:c.1470G>A | ENSP00000503394.1:p.Met490Ile | |
| ENST00000676757.1:c.1470G>A | ENSP00000504289.1:p.Met490Ile | |
| ENST00000677720.1:c.1677G>A | ENSP00000504840.1:p.Met559Ile | |
| ENST00000260731.4:c.1677G>A | ENSP00000260731.3:p.Met559Ile | |
| NM_004523.3:c.1677G>A | NP_004514.2:p.Met559Ile | |
| NM_004523.4:c.1677G>A MANE Select | NP_004514.2:p.Met559Ile |