Linked Data
ClinVar Variation Id:
532267
dbSNP Id:
rs778349684
ExAC:
X:13767609 G / A
gnomAD v2:
X-13767609-G-A
gnomAD v3:
X-13749490-G-A
gnomAD v4:
X-13749490-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13749490G>A , CM000685.2:g.13749490G>A | GRCh38 |
| NC_000023.10:g.13767609G>A , CM000685.1:g.13767609G>A | GRCh37 |
| NC_000023.9:g.13677530G>A | NCBI36 |
| NG_008872.1:g.19778G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.*585G>A | ENSP00000369941.2:n.*585G>A | |
| ENST00000398395.8:c.*585G>A | ENSP00000381432.5:n.*585G>A | |
| ENST00000464463.6:n.1175G>A | ||
| ENST00000490265.6:n.757G>A | ||
| ENST00000682237.1:c.892G>A | ENSP00000507121.1:p.Gly298Arg | |
| ENST00000682562.1:c.*585G>A | ENSP00000507874.1:n.*585G>A | |
| ENST00000682953.1:c.*955G>A | ENSP00000507878.1:n.*955G>A | |
| ENST00000683055.1:c.787G>A | ENSP00000508191.1:p.Gly263Arg | |
| ENST00000683065.1:n.301G>A | ||
| ENST00000683284.1:c.*459G>A | ENSP00000507837.1:n.*459G>A | |
| ENST00000683427.1:c.892G>A | ENSP00000507290.1:p.Gly298Arg | |
| ENST00000683454.1:n.906G>A | ||
| ENST00000683637.1:n.1337G>A | ||
| ENST00000683655.1:c.*442G>A | ENSP00000506770.1:n.*442G>A | |
| ENST00000683713.1:c.*459G>A | ENSP00000507797.1:n.*459G>A | |
| ENST00000684577.1:c.*585G>A | ENSP00000507871.1:n.*585G>A | |
| ENST00000340096.11:c.892G>A MANE Select | ENSP00000344314.6:p.Gly298Arg | |
| ENST00000340096.10:c.892G>A | ENSP00000344314.6:p.Gly298Arg | |
| ENST00000380550.6:c.892G>A | ENSP00000369923.3:p.Gly298Arg | |
| ENST00000380567.5:c.472G>A | ENSP00000369941.1:p.Gly158Arg | |
| ENST00000398395.7:c.481G>A | ENSP00000381432.4:p.Gly161Arg | |
| ENST00000490265.5:n.1203G>A | ||
| NM_003611.2:c.892G>A | NP_003602.1:p.Gly298Arg | |
| XM_005274599.2:c.913G>A | XP_005274656.1:p.Gly305Arg | |
| XM_005274602.2:c.913G>A | XP_005274659.1:p.Gly305Arg | |
| XM_005274603.2:c.913G>A | XP_005274660.1:p.Gly305Arg | |
| XM_005274604.2:c.892G>A | XP_005274661.1:p.Gly298Arg | |
| XM_005274606.2:c.748G>A | XP_005274663.1:p.Gly250Arg | |
| XM_005274607.3:c.472G>A | XP_005274664.1:p.Gly158Arg | |
| XM_011545591.1:c.913G>A | XP_011543893.1:p.Gly305Arg | |
| XM_011545592.1:c.700G>A | XP_011543894.1:p.Gly234Arg | |
| XM_011545593.1:c.913G>A | XP_011543895.1:p.Gly305Arg | |
| XM_011545594.1:c.571G>A | XP_011543896.1:p.Gly191Arg | |
| XM_011545595.1:c.571G>A | XP_011543897.1:p.Gly191Arg | |
| XM_011545596.1:c.913G>A | XP_011543898.1:p.Gly305Arg | |
| XM_011545597.1:c.472G>A | XP_011543899.1:p.Gly158Arg | |
| XR_247288.2:n.1252G>A | ||
| NM_001330209.1:c.892G>A | NP_001317138.1:p.Gly298Arg | |
| NM_001330210.1:c.472G>A | NP_001317139.1:p.Gly158Arg | |
| XM_005274606.4:c.748G>A | XP_005274663.1:p.Gly250Arg | |
| XM_011545592.3:c.700G>A | XP_011543894.1:p.Gly234Arg | |
| XM_011545594.3:c.571G>A | XP_011543896.1:p.Gly191Arg | |
| XM_011545597.2:c.472G>A | XP_011543899.1:p.Gly158Arg | |
| XM_017029909.1:c.472G>A | XP_016885398.1:p.Gly158Arg | |
| XM_024452468.1:c.-1048G>A | XP_024308236.1:n.-1048G>A | |
| XM_024452469.1:c.-1048G>A | XP_024308237.1:n.-1048G>A | |
| XM_024452470.1:c.-1048G>A | XP_024308238.1:n.-1048G>A | |
| XM_024452471.1:c.-1048G>A | XP_024308239.1:n.-1048G>A | |
| NM_003611.3:c.892G>A MANE Select | NP_003602.1:p.Gly298Arg | |
| NM_001330209.2:c.892G>A | NP_001317138.1:p.Gly298Arg | |
| NM_001330210.2:c.472G>A | NP_001317139.1:p.Gly158Arg |