Linked Data
dbSNP Id:
rs748251503
ExAC:
X:601603 G / C
gnomAD v2:
X-601603-G-C
gnomAD v3:
X-640868-G-C
gnomAD v4:
X-640868-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.640868G>C , CM000685.2:g.640868G>C | GRCh38 |
| NC_000023.10:g.601603G>C , CM000685.1:g.601603G>C | GRCh37 |
| NC_000023.9:g.521603G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686671.1:c.534G>C MANE Select | ENSP00000508521.1:p.Gln178His | |
| ENST00000334060.8:c.534G>C | ENSP00000335505.3:p.Gln178His | |
| ENST00000381575.6:c.534G>C | ENSP00000370987.1:p.Gln178His | |
| ENST00000381578.6:c.534G>C | ENSP00000370990.1:p.Gln178His | |
| ENST00000554971.6:c.534G>C | ENSP00000452016.1:p.Gln178His |