Linked Data
ClinVar Variation Id:
424656
dbSNP Id:
rs763958615
ExAC:
8:37611512 A / T
gnomAD v2:
8-37611512-A-T
gnomAD v3:
8-37753994-A-T
gnomAD v4:
8-37753994-A-T
PubMed:
PMID:28832565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37753994A>T , CM000670.2:g.37753994A>T | GRCh38 |
| NC_000008.10:g.37611512A>T , CM000670.1:g.37611512A>T | GRCh37 |
| NC_000008.9:g.37730670A>T | NCBI36 |
| NG_032059.1:g.22416A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519638.3:c.899A>T MANE Select | ENSP00000428112.1:p.Asp300Val | |
| ENST00000276461.9:c.899A>T | ENSP00000276461.5:p.Asp300Val | |
| ENST00000519638.1:c.899A>T | ENSP00000428112.1:p.Asp300Val | |
| ENST00000521644.5:c.899A>T | ENSP00000429621.1:p.Asp300Val | |
| NM_007175.6:c.899A>T | NP_009106.1:p.Asp300Val | |
| XM_005273392.1:c.899A>T | XP_005273449.1:p.Asp300Val | |
| XM_006716280.1:c.653A>T | XP_006716343.1:p.Asp218Val | |
| NM_001362878.1:c.899A>T | NP_001349807.1:p.Asp300Val | |
| NM_007175.7:c.899A>T | NP_009106.1:p.Asp300Val | |
| XM_005273392.3:c.899A>T | XP_005273449.1:p.Asp300Val | |
| XM_006716280.2:c.653A>T | XP_006716343.1:p.Asp218Val | |
| XM_024447058.1:c.899A>T | XP_024302826.1:p.Asp300Val | |
| NM_001362878.2:c.899A>T | NP_001349807.1:p.Asp300Val | |
| NM_007175.8:c.899A>T MANE Select | NP_009106.1:p.Asp300Val |