Linked Data
dbSNP Id:
rs775735494
ExAC:
16:74750470 A / T
gnomAD v2:
16-74750470-A-T
gnomAD v3:
16-74716572-A-T
gnomAD v4:
16-74716572-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74716572A>T , CM000678.2:g.74716572A>T | GRCh38 |
| NC_000016.9:g.74750470A>T , CM000678.1:g.74750470A>T | GRCh37 |
| NC_000016.8:g.73307971A>T | NCBI36 |
| NG_017070.1:g.63260T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.814T>A MANE Select | ENSP00000219368.3:p.Phe272Ile | |
| ENST00000219368.7:c.814T>A | ENSP00000219368.3:p.Phe272Ile | |
| ENST00000562145.1:n.535T>A | ||
| ENST00000567683.5:c.*93T>A | ENSP00000455126.1:n.*93T>A | |
| NM_024306.4:c.814T>A | NP_077282.3:p.Phe272Ile | |
| XM_011523319.1:c.574T>A | XP_011521621.1:p.Phe192Ile | |
| XM_011523317.3:c.*1678T>A | XP_011521619.1:n.*1678T>A | |
| XM_011523319.2:c.574T>A | XP_011521621.1:p.Phe192Ile | |
| NM_024306.5:c.814T>A MANE Select | NP_077282.3:p.Phe272Ile |