Linked Data
dbSNP Id:
rs769950851
ExAC:
1:237016270 T / C
gnomAD v2:
1-237016270-T-C
gnomAD v4:
1-236852970-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236852970T>C , CM000663.2:g.236852970T>C | GRCh38 |
| NC_000001.10:g.237016270T>C , CM000663.1:g.237016270T>C | GRCh37 |
| NC_000001.9:g.235082893T>C | NCBI36 |
| NG_008959.1:g.62690T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.1835T>C MANE Select | ENSP00000355536.5:p.Val612Ala | |
| ENST00000535889.6:c.1835T>C | ENSP00000441845.1:p.Val612Ala | |
| ENST00000650888.1:c.*877T>C | ENSP00000498393.1:n.*877T>C | |
| ENST00000651455.1:c.*579T>C | ENSP00000498963.1:n.*579T>C | |
| ENST00000674797.2:c.1487T>C | ENSP00000502299.2:p.Val496Ala | |
| ENST00000679569.1:n.2149T>C | ||
| ENST00000679842.1:c.1835T>C | ENSP00000506109.1:p.Val612Ala | |
| ENST00000680454.1:n.2279T>C | ||
| ENST00000681102.1:c.1655T>C | ENSP00000505600.1:p.Val552Ala | |
| ENST00000681177.1:c.1516-6863T>C | ENSP00000506327.1:n.1516-6863T>C | |
| ENST00000681937.1:n.2148-6863T>C | ||
| ENST00000366576.3:c.497T>C | ENSP00000355535.3:p.Val166Ala | |
| ENST00000366577.9:c.1835T>C | ENSP00000355536.5:p.Val612Ala | |
| ENST00000463959.1:n.1854T>C | ||
| ENST00000535889.5:c.1835T>C | ENSP00000441845.1:p.Val612Ala | |
| NM_000254.2:c.1835T>C | NP_000245.2:p.Val612Ala | |
| NM_001291939.1:c.1835T>C | NP_001278868.1:p.Val612Ala | |
| NM_001291940.1:c.614T>C | NP_001278869.1:p.Val205Ala | |
| XM_005273141.3:c.1832T>C | XP_005273198.1:p.Val611Ala | |
| XM_006711769.2:c.1835T>C | XP_006711832.1:p.Val612Ala | |
| XM_006711770.1:c.899T>C | XP_006711833.1:p.Val300Ala | |
| XM_011544193.1:c.1835T>C | XP_011542495.1:p.Val612Ala | |
| XM_011544194.1:c.2003T>C | XP_011542496.1:p.Val668Ala | |
| XM_005273141.5:c.1832T>C | XP_005273198.1:p.Val611Ala | |
| XM_006711770.3:c.899T>C | XP_006711833.1:p.Val300Ala | |
| XM_011544194.3:c.2003T>C | XP_011542496.1:p.Val668Ala | |
| XM_017001329.2:c.2003T>C | XP_016856818.1:p.Val668Ala | |
| XM_017001330.2:c.2003T>C | XP_016856819.1:p.Val668Ala | |
| NM_001291940.2:c.614T>C | NP_001278869.1:p.Val205Ala | |
| NM_000254.3:c.1835T>C MANE Select | NP_000245.2:p.Val612Ala |