Linked Data
ClinVar Variation Id:
217687
dbSNP Id:
rs863225213
gnomAD v3:
X-13736515-A-G
gnomAD v4:
X-13736515-A-G
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13736515A>G , CM000685.2:g.13736515A>G | GRCh38 |
| NC_000023.10:g.13754634A>G , CM000685.1:g.13754634A>G | GRCh37 |
| NC_000023.9:g.13664555A>G | NCBI36 |
| NG_008872.1:g.6803A>G | |
| NG_011555.1:g.3109T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.149A>G | ENSP00000369941.2:p.His50Arg | |
| ENST00000398395.8:c.149A>G | ENSP00000381432.5:p.His50Arg | |
| ENST00000464463.6:n.432A>G | ||
| ENST00000485052.6:n.642A>G | ||
| ENST00000490265.6:n.121A>G | ||
| ENST00000682237.1:c.149A>G | ENSP00000507121.1:p.His50Arg | |
| ENST00000682562.1:c.149A>G | ENSP00000507874.1:p.His50Arg | |
| ENST00000682953.1:c.*212A>G | ENSP00000507878.1:n.*212A>G | |
| ENST00000683055.1:c.149A>G | ENSP00000508191.1:p.His50Arg | |
| ENST00000683284.1:c.112-141A>G | ENSP00000507837.1:n.112-141A>G | |
| ENST00000683427.1:c.149A>G | ENSP00000507290.1:p.His50Arg | |
| ENST00000683454.1:n.38A>G | ||
| ENST00000683655.1:c.149A>G | ENSP00000506770.1:p.His50Arg | |
| ENST00000683713.1:c.149A>G | ENSP00000507797.1:p.His50Arg | |
| ENST00000684401.1:n.540A>G | ||
| ENST00000684577.1:c.149A>G | ENSP00000507871.1:p.His50Arg | |
| ENST00000340096.11:c.149A>G MANE Select | ENSP00000344314.6:p.His50Arg | |
| ENST00000340096.10:c.149A>G | ENSP00000344314.6:p.His50Arg | |
| ENST00000380550.6:c.149A>G | ENSP00000369923.3:p.His50Arg | |
| ENST00000380567.5:c.-397A>G | ENSP00000369941.1:n.-397A>G | |
| ENST00000398395.7:c.-386A>G | ENSP00000381432.4:n.-386A>G | |
| ENST00000485052.5:n.653A>G | ||
| ENST00000490265.5:n.460A>G | ||
| NM_003611.2:c.149A>G | NP_003602.1:p.His50Arg | |
| XM_005274599.2:c.170A>G | XP_005274656.1:p.His57Arg | |
| XM_005274602.2:c.170A>G | XP_005274659.1:p.His57Arg | |
| XM_005274603.2:c.170A>G | XP_005274660.1:p.His57Arg | |
| XM_005274604.2:c.149A>G | XP_005274661.1:p.His50Arg | |
| XM_005274606.2:c.5A>G | XP_005274663.1:p.His2Arg | |
| XM_011545591.1:c.170A>G | XP_011543893.1:p.His57Arg | |
| XM_011545592.1:c.98-141A>G | XP_011543894.1:n.98-141A>G | |
| XM_011545593.1:c.170A>G | XP_011543895.1:p.His57Arg | |
| XM_011545594.1:c.-32-141A>G | XP_011543896.1:n.-32-141A>G | |
| XM_011545595.1:c.-32-141A>G | XP_011543897.1:n.-32-141A>G | |
| XM_011545596.1:c.170A>G | XP_011543898.1:p.His57Arg | |
| XM_011545597.1:c.-397A>G | XP_011543899.1:n.-397A>G | |
| XR_247288.2:n.509A>G | ||
| NM_001330209.1:c.149A>G | NP_001317138.1:p.His50Arg | |
| NM_001330210.1:c.-397A>G | NP_001317139.1:n.-397A>G | |
| XM_005274606.4:c.5A>G | XP_005274663.1:p.His2Arg | |
| XM_011545592.3:c.98-141A>G | XP_011543894.1:n.98-141A>G | |
| XM_011545594.3:c.-32-141A>G | XP_011543896.1:n.-32-141A>G | |
| XM_011545597.2:c.-397A>G | XP_011543899.1:n.-397A>G | |
| XM_017029909.1:c.-256-141A>G | XP_016885398.1:n.-256-141A>G | |
| XM_024452468.1:c.-1791A>G | XP_024308236.1:n.-1791A>G | |
| XM_024452469.1:c.-1791A>G | XP_024308237.1:n.-1791A>G | |
| XM_024452470.1:c.-1650-141A>G | XP_024308238.1:n.-1650-141A>G | |
| XM_024452471.1:c.-1791A>G | XP_024308239.1:n.-1791A>G | |
| NM_003611.3:c.149A>G MANE Select | NP_003602.1:p.His50Arg | |
| NM_001330209.2:c.149A>G | NP_001317138.1:p.His50Arg | |
| NM_001330210.2:c.-397A>G | NP_001317139.1:n.-397A>G |