Linked Data
ClinVar Variation Id:
2733853
ClinVar RCV Id:
RCV003562224
dbSNP Id:
rs2039571206
MyVariant Identifiers:
chr16:g.58559950G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58526046G>A , CM000678.2:g.58526046G>A | GRCh38 |
| NC_000016.9:g.58559950G>A , CM000678.1:g.58559950G>A | GRCh37 |
| NC_000016.8:g.57117451G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317147.10:c.6546C>T MANE Select | ENSP00000320949.5:p.Ser2182= | |
| ENST00000245138.8:c.561C>T | ENSP00000245138.5:p.Ser187= | |
| ENST00000317147.9:c.6546C>T | ENSP00000320949.5:p.Ser2182= | |
| ENST00000563130.5:n.1421C>T | ||
| ENST00000567188.5:c.*261C>T | ENSP00000456649.1:n.*261C>T | |
| ENST00000569240.5:c.6531C>T | ENSP00000455635.1:p.Ser2177= | |
| NM_001265612.1:c.6531C>T | NP_001252541.1:p.Ser2177= | |
| NM_016284.4:c.6546C>T | NP_057368.3:p.Ser2182= | |
| NR_049763.1:n.7047C>T | ||
| NM_016284.5:c.6546C>T MANE Select | NP_057368.3:p.Ser2182= | |
| NM_001265612.2:c.6531C>T | NP_001252541.1:p.Ser2177= | |
| NR_049763.2:n.6987C>T |