Linked Data
ClinVar Variation Id:
2836962
ClinVar RCV Id:
RCV003630661
MyVariant Identifiers:
chr1:g.237044124G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236880824G>A , CM000663.2:g.236880824G>A | GRCh38 |
| NC_000001.10:g.237044124G>A , CM000663.1:g.237044124G>A | GRCh37 |
| NC_000001.9:g.235110747G>A | NCBI36 |
| NG_008959.1:g.90544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.2664G>A MANE Select | ENSP00000355536.5:p.Lys888= | |
| ENST00000535889.6:c.2511G>A | ENSP00000441845.1:p.Lys837= | |
| ENST00000650888.1:c.*1706G>A | ENSP00000498393.1:n.*1706G>A | |
| ENST00000651455.1:c.*1408G>A | ENSP00000498963.1:n.*1408G>A | |
| ENST00000674797.2:c.2316G>A | ENSP00000502299.2:p.Lys772= | |
| ENST00000679569.1:n.2978G>A | ||
| ENST00000679842.1:c.2475G>A | ENSP00000506109.1:p.Lys825= | |
| ENST00000680454.1:n.3108G>A | ||
| ENST00000681102.1:c.2484G>A | ENSP00000505600.1:p.Lys828= | |
| ENST00000681177.1:c.2226G>A | ENSP00000506327.1:p.Lys742= | |
| ENST00000681937.1:n.2858G>A | ||
| ENST00000366576.3:c.1326G>A | ENSP00000355535.3:p.Lys442= | |
| ENST00000366577.9:c.2664G>A | ENSP00000355536.5:p.Lys888= | |
| ENST00000535889.5:c.2511G>A | ENSP00000441845.1:p.Lys837= | |
| NM_000254.2:c.2664G>A | NP_000245.2:p.Lys888= | |
| NM_001291939.1:c.2511G>A | NP_001278868.1:p.Lys837= | |
| NM_001291940.1:c.1443G>A | NP_001278869.1:p.Lys481= | |
| XM_005273141.3:c.2661G>A | XP_005273198.1:p.Lys887= | |
| XM_006711769.2:c.2664G>A | XP_006711832.1:p.Lys888= | |
| XM_006711770.1:c.1728G>A | XP_006711833.1:p.Lys576= | |
| XM_011544193.1:c.2475G>A | XP_011542495.1:p.Lys825= | |
| XM_011544194.1:c.2832G>A | XP_011542496.1:p.Lys944= | |
| XM_005273141.5:c.2661G>A | XP_005273198.1:p.Lys887= | |
| XM_006711770.3:c.1728G>A | XP_006711833.1:p.Lys576= | |
| XM_011544194.3:c.2832G>A | XP_011542496.1:p.Lys944= | |
| XM_017001329.2:c.2679G>A | XP_016856818.1:p.Lys893= | |
| XM_017001330.2:c.2643G>A | XP_016856819.1:p.Lys881= | |
| NM_001291940.2:c.1443G>A | NP_001278869.1:p.Lys481= | |
| NM_000254.3:c.2664G>A MANE Select | NP_000245.2:p.Lys888= |