Linked Data
ClinVar Variation Id:
2121426
ClinVar RCV Id:
RCV003049155
dbSNP Id:
rs2151310987
MyVariant Identifiers:
chr16:g.3779633G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729632G>A , CM000678.2:g.3729632G>A | GRCh38 |
| NC_000016.9:g.3779633G>A , CM000678.1:g.3779633G>A | GRCh37 |
| NC_000016.8:g.3719634G>A | NCBI36 |
| NG_009873.1:g.155489C>T | |
| NG_009873.2:g.156082C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5415C>T MANE Select | ENSP00000262367.5:p.Thr1805= | |
| ENST00000262367.9:c.5415C>T | ENSP00000262367.5:p.Thr1805= | |
| ENST00000382070.7:c.5301C>T | ENSP00000371502.3:p.Thr1767= | |
| NM_001079846.1:c.5301C>T | NP_001073315.1:p.Thr1767= | |
| NM_004380.2:c.5415C>T | NP_004371.2:p.Thr1805= | |
| XM_005255124.3:c.5370C>T | XP_005255181.1:p.Thr1790= | |
| XM_005255125.3:c.4998C>T | XP_005255182.1:p.Thr1666= | |
| XM_006720848.2:c.5154C>T | XP_006720911.1:p.Thr1718= | |
| XM_011522380.1:c.5361C>T | XP_011520682.1:p.Thr1787= | |
| XM_011522381.1:c.4662C>T | XP_011520683.1:p.Thr1554= | |
| XM_005255124.4:c.5370C>T | XP_005255181.1:p.Thr1790= | |
| XM_005255125.4:c.4998C>T | XP_005255182.1:p.Thr1666= | |
| XM_006720848.3:c.5154C>T | XP_006720911.1:p.Thr1718= | |
| XM_011522381.2:c.4662C>T | XP_011520683.1:p.Thr1554= | |
| XM_017022944.1:c.5409C>T | XP_016878433.1:p.Thr1803= | |
| NM_004380.3:c.5415C>T MANE Select | NP_004371.2:p.Thr1805= |