Linked Data
ClinVar Variation Id:
2857722
ClinVar RCV Id:
RCV003630994
MyVariant Identifiers:
chr1:g.237048504T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236885204T>C , CM000663.2:g.236885204T>C | GRCh38 |
| NC_000001.10:g.237048504T>C , CM000663.1:g.237048504T>C | GRCh37 |
| NC_000001.9:g.235115127T>C | NCBI36 |
| NG_008959.1:g.94924T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366577.10:c.2760T>C MANE Select | ENSP00000355536.5:p.His920= | |
| ENST00000535889.6:c.2607T>C | ENSP00000441845.1:p.His869= | |
| ENST00000650888.1:c.*1802T>C | ENSP00000498393.1:n.*1802T>C | |
| ENST00000651455.1:c.*1504T>C | ENSP00000498963.1:n.*1504T>C | |
| ENST00000674797.2:c.2412T>C | ENSP00000502299.2:p.His804= | |
| ENST00000679569.1:n.3074T>C | ||
| ENST00000679842.1:c.2571T>C | ENSP00000506109.1:p.His857= | |
| ENST00000680454.1:n.3204T>C | ||
| ENST00000681102.1:c.2580T>C | ENSP00000505600.1:p.His860= | |
| ENST00000681177.1:c.2322T>C | ENSP00000506327.1:p.His774= | |
| ENST00000681937.1:n.2954T>C | ||
| ENST00000366576.3:c.1422T>C | ENSP00000355535.3:p.His474= | |
| ENST00000366577.9:c.2760T>C | ENSP00000355536.5:p.His920= | |
| ENST00000535889.5:c.2607T>C | ENSP00000441845.1:p.His869= | |
| NM_000254.2:c.2760T>C | NP_000245.2:p.His920= | |
| NM_001291939.1:c.2607T>C | NP_001278868.1:p.His869= | |
| NM_001291940.1:c.1539T>C | NP_001278869.1:p.His513= | |
| XM_005273141.3:c.2757T>C | XP_005273198.1:p.His919= | |
| XM_006711769.2:c.2760T>C | XP_006711832.1:p.His920= | |
| XM_006711770.1:c.1824T>C | XP_006711833.1:p.His608= | |
| XM_011544193.1:c.2571T>C | XP_011542495.1:p.His857= | |
| XM_011544194.1:c.2928T>C | XP_011542496.1:p.His976= | |
| XM_005273141.5:c.2757T>C | XP_005273198.1:p.His919= | |
| XM_006711770.3:c.1824T>C | XP_006711833.1:p.His608= | |
| XM_011544194.3:c.2928T>C | XP_011542496.1:p.His976= | |
| XM_017001329.2:c.2775T>C | XP_016856818.1:p.His925= | |
| XM_017001330.2:c.2739T>C | XP_016856819.1:p.His913= | |
| NM_001291940.2:c.1539T>C | NP_001278869.1:p.His513= | |
| NM_000254.3:c.2760T>C MANE Select | NP_000245.2:p.His920= |