Linked Data
dbSNP Id:
rs758986831
ExAC:
X:70329130 C / T
gnomAD v2:
X-70329130-C-T
gnomAD v4:
X-71109280-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71109280C>T , CM000685.2:g.71109280C>T | GRCh38 |
| NC_000023.10:g.70329130C>T , CM000685.1:g.70329130C>T | GRCh37 |
| NC_000023.9:g.70245855C>T | NCBI36 |
| NG_009088.1:g.7274G>A , LRG_150:g.7274G>A | |
| NG_021141.1:g.2509G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.705G>A | ENSP00000421262.2:p.Gln235= | |
| ENST00000696903.1:n.756G>A | ||
| ENST00000374202.7:c.705G>A MANE Select | ENSP00000363318.3:p.Gln235= | |
| ENST00000642473.1:n.1069G>A | ||
| ENST00000644022.1:n.971G>A | ||
| ENST00000644708.1:n.1111G>A | ||
| ENST00000644911.1:n.1111G>A | ||
| ENST00000645266.1:c.705G>A | ENSP00000493734.1:p.Gln235= | |
| ENST00000645518.1:c.705G>A | ENSP00000493986.1:p.Gln235= | |
| ENST00000646106.1:c.705G>A | ENSP00000496437.1:p.Gln235= | |
| ENST00000646505.1:c.705G>A | ENSP00000496673.1:p.Gln235= | |
| ENST00000647492.1:c.705G>A | ENSP00000495340.1:p.Gln235= | |
| ENST00000276110.6:n.1298G>A | ||
| ENST00000374188.7:c.-12G>A | ENSP00000363303.3:n.-12G>A | |
| ENST00000374202.6:c.705G>A | ENSP00000363318.2:p.Gln235= | |
| ENST00000456850.6:c.135G>A | ENSP00000388967.2:p.Gln45= | |
| ENST00000464642.5:c.573G>A | ENSP00000425233.1:p.Gln191= | |
| ENST00000482750.5:c.118G>A | ||
| ENST00000512747.3:n.632G>A | ||
| NM_000206.2:c.705G>A , LRG_150t1:c.705G>A | NP_000197.1:p.Gln235= | |
| NM_000206.3:c.705G>A MANE Select | NP_000197.1:p.Gln235= |