Linked Data
dbSNP Id:
rs1568599075
gnomAD v2:
19-46307683-C-A
gnomAD v3:
19-45804425-C-A
gnomAD v4:
19-45804425-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45804425C>A , CM000681.2:g.45804425C>A | GRCh38 |
| NC_000019.9:g.46307683C>A , CM000681.1:g.46307683C>A | GRCh37 |
| NC_000019.8:g.50999523C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221538.8:c.1480G>T MANE Select | ENSP00000221538.2:p.Val494Phe | |
| ENST00000221538.7:c.1480G>T | ENSP00000221538.2:p.Val494Phe | |
| ENST00000597055.1:c.1480G>T | ENSP00000472630.1:p.Val494Phe | |
| ENST00000600188.5:c.688G>T | ENSP00000471559.1:p.Val230Phe | |
| NM_030785.3:c.1480G>T | NP_110412.1:p.Val494Phe | |
| XM_011527351.1:c.1480G>T | XP_011525653.1:p.Val494Phe | |
| XM_011527351.2:c.1480G>T | XP_011525653.1:p.Val494Phe | |
| NM_030785.4:c.1480G>T MANE Select | NP_110412.1:p.Val494Phe |