Linked Data
ClinVar Variation Id:
133694
dbSNP Id:
rs140897453
ExAC:
X:39922906 T / C
gnomAD v2:
X-39922906-T-C
gnomAD v3:
X-40063653-T-C
gnomAD v4:
X-40063653-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.40063653T>C , CM000685.2:g.40063653T>C | GRCh38 |
| NC_000023.10:g.39922906T>C , CM000685.1:g.39922906T>C | GRCh37 |
| NC_000023.9:g.39807850T>C | NCBI36 |
| NG_008880.1:g.118677A>G , LRG_627:g.118677A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378444.9:c.3802A>G MANE Select | ENSP00000367705.4:p.Arg1268Gly | |
| ENST00000406200.4:c.3802A>G | ENSP00000384485.3:p.Arg1268Gly | |
| ENST00000413905.6:c.3700A>G | ENSP00000408006.2:p.Arg1234Gly | |
| ENST00000427012.3:c.3748A>G | ENSP00000403823.3:p.Arg1250Gly | |
| ENST00000442018.6:c.3802A>G | ENSP00000387552.2:p.Arg1268Gly | |
| ENST00000615339.2:c.3802A>G | ENSP00000483217.2:p.Arg1268Gly | |
| ENST00000672922.2:c.3802A>G | ENSP00000499892.2:p.Arg1268Gly | |
| ENST00000673391.1:c.3700A>G | ENSP00000500446.1:p.Arg1234Gly | |
| ENST00000679513.1:c.3802A>G | ENSP00000505761.1:p.Arg1268Gly | |
| ENST00000680831.1:c.3802A>G | ENSP00000505507.1:p.Arg1268Gly | |
| ENST00000342274.8:c.3700A>G | ENSP00000345923.4:p.Arg1234Gly | |
| ENST00000378444.8:c.3802A>G | ENSP00000367705.4:p.Arg1268Gly | |
| ENST00000378455.8:c.3646A>G | ENSP00000367716.4:p.Arg1216Gly | |
| ENST00000378463.5:c.331A>G | ENSP00000367724.1:p.Arg111Gly | |
| ENST00000397354.7:c.3700A>G | ENSP00000380512.3:p.Arg1234Gly | |
| ENST00000406200.2:c.3700A>G | ENSP00000384485.2:p.Arg1234Gly | |
| ENST00000413905.5:c.412A>G | ENSP00000408006.1:p.Arg138Gly | |
| NM_001123383.1:c.3700A>G , LRG_627t1:c.3700A>G | NP_001116855.1:p.Arg1234Gly | |
| NM_001123384.1:c.3646A>G | NP_001116856.1:p.Arg1216Gly | |
| NM_001123385.1:c.3802A>G , LRG_627t2:c.3802A>G | NP_001116857.1:p.Arg1268Gly | |
| NM_017745.5:c.3700A>G | NP_060215.4:p.Arg1234Gly | |
| XM_005272616.1:c.3802A>G | XP_005272673.1:p.Arg1268Gly | |
| XM_005272618.2:c.3802A>G | XP_005272675.1:p.Arg1268Gly | |
| XM_005272619.3:c.3748A>G | XP_005272676.1:p.Arg1250Gly | |
| XM_005272620.3:c.3646A>G | XP_005272677.1:p.Arg1216Gly | |
| XM_006724536.2:c.3802A>G | XP_006724599.1:p.Arg1268Gly | |
| XM_011543929.1:c.3802A>G | XP_011542231.1:p.Arg1268Gly | |
| XM_011543930.1:c.3802A>G | XP_011542232.1:p.Arg1268Gly | |
| XM_011543931.1:c.3802A>G | XP_011542233.1:p.Arg1268Gly | |
| XM_005272618.3:c.3802A>G | XP_005272675.1:p.Arg1268Gly | |
| XM_005272619.4:c.3748A>G | XP_005272676.1:p.Arg1250Gly | |
| XM_005272620.4:c.3646A>G | XP_005272677.1:p.Arg1216Gly | |
| XM_006724536.3:c.3802A>G | XP_006724599.1:p.Arg1268Gly | |
| XM_011543929.2:c.3802A>G | XP_011542231.1:p.Arg1268Gly | |
| XM_011543931.2:c.3802A>G | XP_011542233.1:p.Arg1268Gly | |
| XM_017029615.1:c.3700A>G | XP_016885104.1:p.Arg1234Gly | |
| XM_017029616.2:c.3802A>G | XP_016885105.1:p.Arg1268Gly | |
| NM_001123384.2:c.3646A>G | NP_001116856.1:p.Arg1216Gly | |
| NM_001123385.2:c.3802A>G MANE Select | NP_001116857.1:p.Arg1268Gly | |
| NM_017745.6:c.3700A>G | NP_060215.4:p.Arg1234Gly |