Linked Data
ClinVar Variation Id:
1649139
ClinVar RCV Id:
RCV002163132
dbSNP Id:
rs202160105
ExAC:
10:50669545 T / A
gnomAD v2:
10-50669545-T-A
gnomAD v3:
10-49461499-T-A
gnomAD v4:
10-49461499-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461499T>A , CM000672.2:g.49461499T>A | GRCh38 |
| NC_000010.10:g.50669545T>A , CM000672.1:g.50669545T>A | GRCh37 |
| NC_000010.9:g.50339551T>A | NCBI36 |
| NG_009442.1:g.82603A>T , LRG_465:g.82603A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3836A>T MANE Select | ENSP00000348089.5:p.Tyr1279Phe | |
| ENST00000679552.1:n.907A>T | ||
| ENST00000679871.1:n.982A>T | ||
| ENST00000679974.1:n.885A>T | ||
| ENST00000681632.1:n.5239A>T | ||
| ENST00000681659.1:c.3677A>T | ENSP00000505631.1:p.Tyr1226Phe | |
| ENST00000355832.9:c.3836A>T | ENSP00000348089.5:p.Tyr1279Phe | |
| ENST00000465653.1:n.158A>T | ||
| ENST00000623073.3:c.*2132A>T | ENSP00000485650.1:n.*2132A>T | |
| ENST00000623115.3:c.1946A>T | ENSP00000485321.1:p.Tyr649Phe | |
| ENST00000624341.3:c.1668A>T | ||
| NM_000124.3:c.3836A>T | NP_000115.1:p.Tyr1279Phe | |
| XR_945953.1:n.243-10066T>A | ||
| NM_001346440.1:c.3836A>T | NP_001333369.1:p.Tyr1279Phe | |
| NM_000124.4:c.3836A>T MANE Select | NP_000115.1:p.Tyr1279Phe | |
| NM_001346440.2:c.3836A>T | NP_001333369.1:p.Tyr1279Phe |