Linked Data
ClinVar Variation Id:
265045
dbSNP Id:
rs780348147
ExAC:
X:39932312 G / A
gnomAD v2:
X-39932312-G-A
gnomAD v3:
X-40073059-G-A
gnomAD v4:
X-40073059-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.40073059G>A , CM000685.2:g.40073059G>A | GRCh38 |
| NC_000023.10:g.39932312G>A , CM000685.1:g.39932312G>A | GRCh37 |
| NC_000023.9:g.39817256G>A | NCBI36 |
| NG_008880.1:g.109271C>T , LRG_627:g.109271C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378444.9:c.2287C>T MANE Select | ENSP00000367705.4:p.Arg763Trp | |
| ENST00000406200.4:c.2287C>T | ENSP00000384485.3:p.Arg763Trp | |
| ENST00000413905.6:c.2287C>T | ENSP00000408006.2:p.Arg763Trp | |
| ENST00000427012.3:c.2287C>T | ENSP00000403823.3:p.Arg763Trp | |
| ENST00000442018.6:c.2287C>T | ENSP00000387552.2:p.Arg763Trp | |
| ENST00000615339.2:c.2287C>T | ENSP00000483217.2:p.Arg763Trp | |
| ENST00000672922.2:c.2287C>T | ENSP00000499892.2:p.Arg763Trp | |
| ENST00000673391.1:c.2287C>T | ENSP00000500446.1:p.Arg763Trp | |
| ENST00000679513.1:c.2287C>T | ENSP00000505761.1:p.Arg763Trp | |
| ENST00000680831.1:c.2287C>T | ENSP00000505507.1:p.Arg763Trp | |
| ENST00000342274.8:c.2287C>T | ENSP00000345923.4:p.Arg763Trp | |
| ENST00000378444.8:c.2287C>T | ENSP00000367705.4:p.Arg763Trp | |
| ENST00000378455.8:c.2287C>T | ENSP00000367716.4:p.Arg763Trp | |
| ENST00000397354.7:c.2287C>T | ENSP00000380512.3:p.Arg763Trp | |
| ENST00000406200.2:c.2287C>T | ENSP00000384485.2:p.Arg763Trp | |
| ENST00000490976.5:n.2327C>T | ||
| ENST00000615339.1:c.508C>T | ENSP00000483217.1:p.Arg170Trp | |
| NM_001123383.1:c.2287C>T , LRG_627t1:c.2287C>T | NP_001116855.1:p.Arg763Trp | |
| NM_001123384.1:c.2287C>T | NP_001116856.1:p.Arg763Trp | |
| NM_001123385.1:c.2287C>T , LRG_627t2:c.2287C>T | NP_001116857.1:p.Arg763Trp | |
| NM_017745.5:c.2287C>T | NP_060215.4:p.Arg763Trp | |
| XM_005272616.1:c.2287C>T | XP_005272673.1:p.Arg763Trp | |
| XM_005272618.2:c.2287C>T | XP_005272675.1:p.Arg763Trp | |
| XM_005272619.3:c.2287C>T | XP_005272676.1:p.Arg763Trp | |
| XM_005272620.3:c.2287C>T | XP_005272677.1:p.Arg763Trp | |
| XM_006724536.2:c.2287C>T | XP_006724599.1:p.Arg763Trp | |
| XM_011543929.1:c.2287C>T | XP_011542231.1:p.Arg763Trp | |
| XM_011543930.1:c.2287C>T | XP_011542232.1:p.Arg763Trp | |
| XM_011543931.1:c.2287C>T | XP_011542233.1:p.Arg763Trp | |
| XM_005272618.3:c.2287C>T | XP_005272675.1:p.Arg763Trp | |
| XM_005272619.4:c.2287C>T | XP_005272676.1:p.Arg763Trp | |
| XM_005272620.4:c.2287C>T | XP_005272677.1:p.Arg763Trp | |
| XM_006724536.3:c.2287C>T | XP_006724599.1:p.Arg763Trp | |
| XM_011543929.2:c.2287C>T | XP_011542231.1:p.Arg763Trp | |
| XM_011543931.2:c.2287C>T | XP_011542233.1:p.Arg763Trp | |
| XM_017029615.1:c.2287C>T | XP_016885104.1:p.Arg763Trp | |
| XM_017029616.2:c.2287C>T | XP_016885105.1:p.Arg763Trp | |
| NM_001123384.2:c.2287C>T | NP_001116856.1:p.Arg763Trp | |
| NM_001123385.2:c.2287C>T MANE Select | NP_001116857.1:p.Arg763Trp | |
| NM_017745.6:c.2287C>T | NP_060215.4:p.Arg763Trp |