Linked Data
ClinVar Variation Id:
2179652
ClinVar RCV Id:
RCV002599232
gnomAD v4:
11-35260903-A-G
MyVariant Identifiers:
chr11:g.35282450A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35260903A>G , CM000673.2:g.35260903A>G | GRCh38 |
| NC_000011.9:g.35282450A>G , CM000673.1:g.35282450A>G | GRCh37 |
| NC_000011.8:g.35239026A>G | NCBI36 |
| NG_008727.1:g.163656T>C | |
| NG_008727.2:g.163656T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278379.9:c.1716T>C MANE Select | ENSP00000278379.3:p.Arg572= | |
| ENST00000395750.6:c.1704T>C | ENSP00000379099.2:p.Arg568= | |
| ENST00000395753.6:c.1689T>C | ENSP00000379102.1:p.Arg563= | |
| ENST00000479543.2:n.1268T>C | ||
| ENST00000642171.1:c.*98T>C | ENSP00000495538.1:n.*98T>C | |
| ENST00000642448.1:n.1808T>C | ||
| ENST00000642769.1:c.982T>C | ||
| ENST00000643000.1:c.1689T>C | ENSP00000495164.1:p.Arg563= | |
| ENST00000643134.1:c.1703T>C | ENSP00000495188.1:p.Val568Ala | |
| ENST00000643522.1:c.1482T>C | ENSP00000496375.1:p.Arg494= | |
| ENST00000644050.1:c.1689T>C | ENSP00000496123.1:p.Arg563= | |
| ENST00000644299.1:c.1689T>C | ENSP00000494669.1:p.Arg563= | |
| ENST00000644459.1:c.*208T>C | ENSP00000495861.1:n.*208T>C | |
| ENST00000644779.1:c.1827T>C | ENSP00000494258.1:p.Arg609= | |
| ENST00000644868.1:c.1778T>C | ENSP00000496760.1:n.1778T>C | |
| ENST00000645194.1:c.1689T>C | ENSP00000496093.1:p.Arg563= | |
| ENST00000645303.1:c.1731T>C | ENSP00000496667.1:p.Arg577= | |
| ENST00000645542.1:n.422T>C | ||
| ENST00000645634.1:c.1689T>C | ENSP00000493945.1:p.Arg563= | |
| ENST00000646080.1:c.1707T>C | ENSP00000494113.1:p.Arg569= | |
| ENST00000647076.1:c.457T>C | ||
| ENST00000647104.1:c.1689T>C | ENSP00000494025.1:p.Arg563= | |
| ENST00000278379.7:c.1716T>C | ENSP00000278379.3:p.Arg572= | |
| ENST00000395750.5:c.1689T>C | ENSP00000379099.1:p.Arg563= | |
| ENST00000395753.5:c.1689T>C | ENSP00000379102.1:p.Arg563= | |
| ENST00000464522.2:c.219+4624T>C | ENSP00000435406.1:n.219+4624T>C | |
| ENST00000479543.1:n.532T>C | ||
| NM_001195728.2:c.1689T>C | NP_001182657.1:p.Arg563= | |
| NM_001252652.1:c.1689T>C | NP_001239581.1:p.Arg563= | |
| NM_004171.3:c.1716T>C | NP_004162.2:p.Arg572= | |
| XM_005253067.1:c.1707T>C | XP_005253124.1:p.Arg569= | |
| XM_011520284.1:c.1764T>C | XP_011518586.1:p.Arg588= | |
| XM_011520285.1:c.1704T>C | XP_011518587.1:p.Arg568= | |
| XM_011520286.1:c.1629T>C | XP_011518588.1:p.Arg543= | |
| XM_011520287.1:c.1530T>C | XP_011518589.1:p.Arg510= | |
| XM_011520285.2:c.1704T>C | XP_011518587.1:p.Arg568= | |
| XM_017018136.1:c.1731T>C | XP_016873625.1:p.Arg577= | |
| XM_017018137.1:c.1689T>C | XP_016873626.1:p.Arg563= | |
| XM_017018138.1:c.1689T>C | XP_016873627.1:p.Arg563= | |
| XM_017018139.1:c.1482T>C | XP_016873628.1:p.Arg494= | |
| NM_004171.4:c.1716T>C MANE Select | NP_004162.2:p.Arg572= | |
| NM_001195728.3:c.1689T>C | NP_001182657.1:p.Arg563= | |
| NM_001252652.2:c.1689T>C | NP_001239581.1:p.Arg563= |