Linked Data
dbSNP Id:
rs780019486
ExAC:
1:159683341 A / T
gnomAD v2:
1-159683341-A-T
gnomAD v4:
1-159713551-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159713551A>T , CM000663.2:g.159713551A>T | GRCh38 |
| NC_000001.10:g.159683341A>T , CM000663.1:g.159683341A>T | GRCh37 |
| NC_000001.9:g.157949965A>T | NCBI36 |
| NG_013007.1:g.6039T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255030.9:c.649T>A MANE Select | ENSP00000255030.5:p.Phe217Ile | |
| ENST00000368110.1:c.283T>A | ENSP00000357091.1:p.Phe95Ile | |
| ENST00000368111.5:c.283T>A | ENSP00000357092.1:p.Phe95Ile | |
| ENST00000368112.5:c.250T>A | ENSP00000357093.1:p.Phe84Ile | |
| ENST00000437342.1:c.115T>A | ENSP00000402788.1:p.Phe39Ile | |
| ENST00000473196.1:n.217T>A | ||
| ENST00000489317.1:n.74+456T>A | ||
| NM_000567.2:c.649T>A | NP_000558.2:p.Phe217Ile | |
| XM_011509207.1:c.649T>A | XP_011507509.1:p.Phe217Ile | |
| NM_001329057.1:c.649T>A | NP_001315986.1:p.Phe217Ile | |
| NM_001329058.1:c.250T>A | NP_001315987.1:p.Phe84Ile | |
| NM_000567.3:c.649T>A MANE Select | NP_000558.2:p.Phe217Ile | |
| NM_001329057.2:c.649T>A | NP_001315986.1:p.Phe217Ile | |
| NM_001329058.2:c.250T>A | NP_001315987.1:p.Phe84Ile | |
| NM_001382703.1:c.283T>A | NP_001369632.1:p.Phe95Ile |