Linked Data
ClinVar Variation Id:
2180477
dbSNP Id:
rs139097869
ExAC:
1:197062226 C / T
gnomAD v2:
1-197062226-C-T
gnomAD v3:
1-197093096-C-T
gnomAD v4:
1-197093096-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197093096C>T , CM000663.2:g.197093096C>T | GRCh38 |
| NC_000001.10:g.197062226C>T , CM000663.1:g.197062226C>T | GRCh37 |
| NC_000001.9:g.195328849C>T | NCBI36 |
| NG_015867.1:g.58599G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2537G>A | ||
| ENST00000367409.9:c.9250G>A MANE Select | ENSP00000356379.4:p.Val3084Ile | |
| ENST00000680265.1:c.9472G>A | ENSP00000505384.1:p.Val3158Ile | |
| ENST00000680710.1:c.9250G>A | ENSP00000506676.1:p.Val3084Ile | |
| ENST00000294732.11:c.4495G>A | ENSP00000294732.7:p.Val1499Ile | |
| ENST00000367408.5:c.2245G>A | ENSP00000356378.1:p.Val749Ile | |
| ENST00000367409.8:c.9250G>A | ENSP00000356379.4:p.Val3084Ile | |
| ENST00000612785.1:c.3208G>A | ENSP00000479244.1:p.Val1070Ile | |
| NM_001206846.1:c.4495G>A | NP_001193775.1:p.Val1499Ile | |
| NM_018136.4:c.9250G>A | NP_060606.3:p.Val3084Ile | |
| NM_018136.5:c.9250G>A MANE Select | NP_060606.3:p.Val3084Ile | |
| NM_001206846.2:c.4495G>A | NP_001193775.1:p.Val1499Ile |