Linked Data
ClinVar Variation Id:
1957313
ClinVar RCV Id:
RCV002706207
dbSNP Id:
rs781870298
ExAC:
X:48759759 G / A
gnomAD v2:
X-48759759-G-A
gnomAD v3:
X-48902482-G-A
gnomAD v4:
X-48902482-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48902482G>A , CM000685.2:g.48902482G>A | GRCh38 |
| NC_000023.10:g.48759759G>A , CM000685.1:g.48759759G>A | GRCh37 |
| NC_000023.9:g.48644703G>A | NCBI36 |
| NG_015967.1:g.9565G>A | |
| NG_015968.2:g.668C>T | |
| NG_034300.1:g.14477C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218224.9:c.542G>A | ENSP00000218224.4:p.Arg181Gln | |
| ENST00000376563.6:c.542G>A | ENSP00000365747.1:p.Arg181Gln | |
| ENST00000396763.6:c.542G>A | ENSP00000379985.1:p.Arg181Gln | |
| ENST00000443648.6:c.542G>A | ENSP00000414861.2:p.Arg181Gln | |
| ENST00000456306.2:c.-32-250G>A | ENSP00000393013.2:n.-32-250G>A | |
| ENST00000472742.6:c.444+98G>A | ENSP00000509191.1:n.444+98G>A | |
| ENST00000473764.6:n.1157G>A | ||
| ENST00000474671.6:n.1351G>A | ||
| ENST00000477997.6:n.1277G>A | ||
| ENST00000486150.6:n.1451G>A | ||
| ENST00000692023.1:c.*749G>A | ENSP00000509927.1:n.*749G>A | |
| ENST00000447146.7:c.542G>A MANE Select | ENSP00000391759.2:p.Arg181Gln | |
| ENST00000651767.1:c.542G>A | ENSP00000498362.1:p.Arg181Gln | |
| ENST00000218224.8:c.542G>A | ENSP00000218224.4:p.Arg181Gln | |
| ENST00000247140.8:c.293-250G>A | ENSP00000247140.4:n.293-250G>A | |
| ENST00000376563.5:c.542G>A | ENSP00000365747.1:p.Arg181Gln | |
| ENST00000376566.8:c.293-250G>A | ENSP00000365750.4:n.293-250G>A | |
| ENST00000396763.5:c.542G>A | ENSP00000379985.1:p.Arg181Gln | |
| ENST00000443648.5:c.542G>A | ENSP00000414861.1:p.Arg181Gln | |
| ENST00000447146.6:c.542G>A | ENSP00000391759.2:p.Arg181Gln | |
| ENST00000456306.1:c.259-250G>A | ||
| ENST00000463529.4:n.542G>A | ||
| ENST00000465859.2:n.556G>A | ||
| ENST00000470059.5:n.542G>A | ||
| ENST00000470062.5:n.549+98G>A | ||
| ENST00000472742.5:n.613+98G>A | ||
| ENST00000473764.5:n.1114G>A | ||
| ENST00000474671.5:n.602G>A | ||
| ENST00000477997.5:n.623G>A | ||
| NM_001032381.1:c.542G>A | NP_001027553.1:p.Arg181Gln | |
| NM_001032382.1:c.542G>A | NP_001027554.1:p.Arg181Gln | |
| NM_001032383.1:c.542G>A | NP_001027555.1:p.Arg181Gln | |
| NM_001032384.1:c.542G>A | NP_001027556.1:p.Arg181Gln | |
| NM_001167989.1:c.542G>A | NP_001161461.1:p.Arg181Gln | |
| NM_001167990.1:c.518G>A | NP_001161462.1:p.Arg173Gln | |
| NM_001167992.1:c.242G>A | NP_001161464.1:p.Arg81Gln | |
| NM_005710.2:c.542G>A | NP_005701.1:p.Arg181Gln | |
| NM_144495.2:c.293-250G>A | NP_652766.1:n.293-250G>A | |
| XM_005272571.3:c.542G>A | XP_005272628.1:p.Arg181Gln | |
| XM_005272572.3:c.293-250G>A | XP_005272629.1:n.293-250G>A | |
| XM_011543884.1:c.542G>A | XP_011542186.1:p.Arg181Gln | |
| XM_005272572.4:c.293-250G>A | XP_005272629.1:n.293-250G>A | |
| XM_011543884.2:c.542G>A | XP_011542186.1:p.Arg181Gln | |
| XM_017029207.1:c.542G>A | XP_016884696.1:p.Arg181Gln | |
| NM_001032381.2:c.542G>A | NP_001027553.1:p.Arg181Gln | |
| NM_001032382.2:c.542G>A MANE Select | NP_001027554.1:p.Arg181Gln | |
| NM_001032383.2:c.542G>A | NP_001027555.1:p.Arg181Gln | |
| NM_001167989.2:c.542G>A | NP_001161461.1:p.Arg181Gln | |
| NM_001167990.2:c.518G>A | NP_001161462.1:p.Arg173Gln | |
| NM_144495.3:c.293-250G>A | NP_652766.1:n.293-250G>A |