Linked Data
dbSNP Id:
rs758375635
ExAC:
19:46307578 T / A
gnomAD v2:
19-46307578-T-A
gnomAD v4:
19-45804320-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45804320T>A , CM000681.2:g.45804320T>A | GRCh38 |
| NC_000019.9:g.46307578T>A , CM000681.1:g.46307578T>A | GRCh37 |
| NC_000019.8:g.50999418T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221538.8:c.1585A>T MANE Select | ENSP00000221538.2:p.Ile529Phe | |
| ENST00000221538.7:c.1585A>T | ENSP00000221538.2:p.Ile529Phe | |
| ENST00000597055.1:c.1585A>T | ENSP00000472630.1:p.Ile529Phe | |
| ENST00000600188.5:c.793A>T | ENSP00000471559.1:p.Ile265Phe | |
| NM_030785.3:c.1585A>T | NP_110412.1:p.Ile529Phe | |
| XM_011527351.1:c.1585A>T | XP_011525653.1:p.Ile529Phe | |
| XM_011527351.2:c.1585A>T | XP_011525653.1:p.Ile529Phe | |
| NM_030785.4:c.1585A>T MANE Select | NP_110412.1:p.Ile529Phe |