Linked Data
dbSNP Id:
rs765405224
ExAC:
19:7591744 G / A
gnomAD v2:
19-7591744-G-A
gnomAD v3:
19-7526858-G-A
gnomAD v4:
19-7526858-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526858G>A , CM000681.2:g.7526858G>A | GRCh38 |
| NC_000019.9:g.7591744G>A , CM000681.1:g.7591744G>A | GRCh37 |
| NC_000019.8:g.7497744G>A | NCBI36 |
| NG_015806.1:g.9249G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.503G>A MANE Select | ENSP00000264079.5:p.Arg168Gln | |
| ENST00000264079.10:c.503G>A | ENSP00000264079.5:p.Arg168Gln | |
| ENST00000394321.9:n.583G>A | ||
| ENST00000596008.1:n.465G>A | ||
| ENST00000598406.1:n.324G>A | ||
| ENST00000601003.1:c.503G>A | ENSP00000469074.1:p.Arg168Gln | |
| NM_020533.2:c.503G>A | NP_065394.1:p.Arg168Gln | |
| NM_020533.3:c.503G>A MANE Select | NP_065394.1:p.Arg168Gln |