Linked Data
ClinVar Variation Id:
540105
ClinVar RCV Id:
RCV000650043
dbSNP Id:
rs753845661
ExAC:
16:81819767 C / T
gnomAD v2:
16-81819767-C-T
gnomAD v4:
16-81786162-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81786162C>T , CM000678.2:g.81786162C>T | GRCh38 |
| NC_000016.9:g.81819767C>T , CM000678.1:g.81819767C>T | GRCh37 |
| NC_000016.8:g.80377268C>T | NCBI36 |
| NG_032019.2:g.52066C>T , LRG_376:g.52066C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563193.2:c.173C>T | ENSP00000455533.2:p.Ala58Val | |
| ENST00000697561.1:c.173C>T | ENSP00000513337.1:p.Ala58Val | |
| ENST00000697562.1:c.173C>T | ENSP00000513338.1:p.Ala58Val | |
| ENST00000697563.1:c.173C>T | ENSP00000513339.1:p.Ala58Val | |
| ENST00000697564.1:c.173C>T | ENSP00000513340.1:p.Ala58Val | |
| ENST00000697565.1:n.113C>T | ||
| ENST00000697581.1:c.173C>T | ENSP00000513346.1:p.Ala58Val | |
| ENST00000697582.1:c.173C>T | ENSP00000513347.1:p.Ala58Val | |
| ENST00000564138.6:c.173C>T MANE Select | ENSP00000482457.1:p.Ala58Val | |
| ENST00000359376.7:c.173C>T | ENSP00000352336.4:p.Ala58Val | |
| ENST00000564138.5:c.173C>T | ENSP00000482457.1:p.Ala58Val | |
| ENST00000565054.5:c.173C>T | ENSP00000455956.1:p.Ala58Val | |
| ENST00000567980.5:n.417C>T | ||
| ENST00000569929.5:n.303C>T | ||
| NM_002661.4:c.173C>T | NP_002652.2:p.Ala58Val | |
| NM_002661.5:c.173C>T MANE Select | NP_002652.2:p.Ala58Val |