Linked Data
dbSNP Id:
rs771141566
ExAC:
X:135730559 A / G
gnomAD v2:
X-135730559-A-G
gnomAD v4:
X-136648400-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136648400A>G , CM000685.2:g.136648400A>G | GRCh38 |
| NC_000023.10:g.135730559A>G , CM000685.1:g.135730559A>G | GRCh37 |
| NC_000023.9:g.135558225A>G | NCBI36 |
| NG_007280.1:g.5224A>G , LRG_141:g.5224A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.152A>G | ENSP00000512122.1:p.Asp51Gly | |
| ENST00000695725.1:c.152A>G | ENSP00000512123.1:p.Asp51Gly | |
| ENST00000695726.1:n.195A>G | ||
| ENST00000695727.1:n.139A>G | ||
| ENST00000695728.1:n.139A>G | ||
| ENST00000370629.7:c.152A>G MANE Select | ENSP00000359663.2:p.Asp51Gly | |
| ENST00000370628.2:c.152A>G | ENSP00000359662.2:p.Asp51Gly | |
| ENST00000370629.6:c.152A>G | ENSP00000359663.2:p.Asp51Gly | |
| NM_000074.2:c.152A>G , LRG_141t1:c.152A>G | NP_000065.1:p.Asp51Gly | |
| NM_000074.3:c.152A>G MANE Select | NP_000065.1:p.Asp51Gly |