Linked Data
ClinVar Variation Id:
1328211
ClinVar RCV Id:
RCV001795647
dbSNP Id:
rs189637126
ExAC:
15:90210172 C / T
gnomAD v2:
15-90210172-C-T
gnomAD v3:
15-89666941-C-T
gnomAD v4:
15-89666941-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89666941C>T , CM000677.2:g.89666941C>T | GRCh38 |
| NC_000015.9:g.90210172C>T , CM000677.1:g.90210172C>T | GRCh37 |
| NC_000015.8:g.88011176C>T | NCBI36 |
| NG_029172.1:g.17477G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300055.10:c.1204G>A MANE Select | ENSP00000300055.5:p.Val402Met | |
| ENST00000300055.9:c.1204G>A | ENSP00000300055.5:p.Val402Met | |
| ENST00000430628.2:c.1204G>A | ENSP00000402167.2:p.Val402Met | |
| ENST00000560330.1:c.123+157G>A | ENSP00000453426.1:n.123+157G>A | |
| NM_001145311.1:c.1204G>A | NP_001138783.1:p.Val402Met | |
| NM_002666.4:c.1204G>A | NP_002657.3:p.Val402Met | |
| XM_005254934.3:c.1204G>A | XP_005254991.1:p.Val402Met | |
| XM_005254934.4:c.1204G>A | XP_005254991.1:p.Val402Met | |
| NM_002666.5:c.1204G>A MANE Select | NP_002657.3:p.Val402Met | |
| NM_001145311.2:c.1204G>A | NP_001138783.1:p.Val402Met |