Linked Data
ClinVar Variation Id:
446453
dbSNP Id:
rs201562855
ExAC:
7:107330593 A / T
gnomAD v2:
7-107330593-A-T
gnomAD v3:
7-107690148-A-T
gnomAD v4:
7-107690148-A-T
PubMed:
PMID:24105851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107690148A>T , CM000669.2:g.107690148A>T | GRCh38 |
| NC_000007.13:g.107330593A>T , CM000669.1:g.107330593A>T | GRCh37 |
| NC_000007.12:g.107117829A>T | NCBI36 |
| NG_008489.1:g.34514A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1174A>T MANE Select | ENSP00000494017.1:p.Asn392Tyr | |
| ENST00000265715.7:c.1174A>T | ENSP00000265715.3:p.Asn392Tyr | |
| NM_000441.1:c.1174A>T | NP_000432.1:p.Asn392Tyr | |
| XM_005250425.1:c.1174A>T | XP_005250482.1:p.Asn392Tyr | |
| XM_006716025.2:c.1174A>T | XP_006716088.1:p.Asn392Tyr | |
| XM_005250425.2:c.1174A>T | XP_005250482.1:p.Asn392Tyr | |
| XM_006716025.3:c.1174A>T | XP_006716088.1:p.Asn392Tyr | |
| XM_017012318.1:c.1174A>T | XP_016867807.1:p.Asn392Tyr | |
| NM_000441.2:c.1174A>T MANE Select | NP_000432.1:p.Asn392Tyr |