Linked Data
dbSNP Id:
rs768181706
ExAC:
X:133547899 A / G
gnomAD v2:
X-133547899-A-G
gnomAD v3:
X-134413869-A-G
gnomAD v4:
X-134413869-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134413869A>G , CM000685.2:g.134413869A>G | GRCh38 |
| NC_000023.10:g.133547899A>G , CM000685.1:g.133547899A>G | GRCh37 |
| NC_000023.9:g.133375565A>G | NCBI36 |
| NG_008886.1:g.45558A>G , LRG_629:g.45558A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685553.1:c.*551A>G | ENSP00000510193.1:n.*551A>G | |
| ENST00000687496.1:c.530A>G | ENSP00000509551.1:p.Lys177Arg | |
| ENST00000688598.1:c.530A>G | ENSP00000510410.1:p.Lys177Arg | |
| ENST00000691812.1:c.632A>G | ENSP00000510211.1:p.Lys211Arg | |
| ENST00000693759.1:c.*244A>G | ENSP00000509518.1:n.*244A>G | |
| ENST00000370803.8:c.632A>G MANE Select | ENSP00000359839.4:p.Lys211Arg | |
| ENST00000332070.7:c.632A>G | ENSP00000329097.3:p.Lys211Arg | |
| ENST00000370799.5:c.635A>G | ENSP00000359835.1:p.Lys212Arg | |
| ENST00000370800.4:c.635A>G | ENSP00000359836.4:p.Lys212Arg | |
| ENST00000370803.7:c.632A>G | ENSP00000359839.3:p.Lys211Arg | |
| ENST00000625464.2:c.635A>G | ENSP00000487420.1:p.Lys212Arg | |
| NM_001015877.1:c.632A>G , LRG_629t1:c.632A>G | NP_001015877.1:p.Lys211Arg | |
| NM_032335.3:c.635A>G , LRG_629t2:c.635A>G | NP_115711.2:p.Lys212Arg | |
| NM_032458.2:c.632A>G | NP_115834.1:p.Lys211Arg | |
| NM_001015877.2:c.632A>G MANE Select | NP_001015877.1:p.Lys211Arg | |
| NM_032458.3:c.632A>G | NP_115834.1:p.Lys211Arg |