Linked Data
dbSNP Id:
rs367892499
ExAC:
X:601573 G / A
gnomAD v2:
X-601573-G-A
gnomAD v3:
X-640838-G-A
gnomAD v4:
X-640838-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.640838G>A , CM000685.2:g.640838G>A | GRCh38 |
| NC_000023.10:g.601573G>A , CM000685.1:g.601573G>A | GRCh37 |
| NC_000023.9:g.521573G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686671.1:c.504G>A MANE Select | ENSP00000508521.1:p.Arg168= | |
| ENST00000334060.8:c.504G>A | ENSP00000335505.3:p.Arg168= | |
| ENST00000381575.6:c.504G>A | ENSP00000370987.1:p.Arg168= | |
| ENST00000381578.6:c.504G>A | ENSP00000370990.1:p.Arg168= | |
| ENST00000554971.6:c.504G>A | ENSP00000452016.1:p.Arg168= |