Linked Data
ClinVar Variation Id:
2881959
ClinVar RCV Id:
RCV003708393
dbSNP Id:
rs2093647047
gnomAD v3:
16-2276746-G-A
gnomAD v4:
16-2276746-G-A
MyVariant Identifiers:
chr16:g.2326747G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2276746G>A , CM000678.2:g.2276746G>A | GRCh38 |
| NC_000016.9:g.2326747G>A , CM000678.1:g.2326747G>A | GRCh37 |
| NC_000016.8:g.2266748G>A | NCBI36 |
| NG_011790.1:g.69001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.5043C>T MANE Select | ENSP00000301732.5:p.Ser1681= | |
| ENST00000301732.9:c.5043C>T | ENSP00000301732.5:p.Ser1681= | |
| ENST00000382381.7:c.4869C>T | ENSP00000371818.3:p.Ser1623= | |
| NM_001089.2:c.5043C>T | NP_001080.2:p.Ser1681= | |
| NM_001089.3:c.5043C>T MANE Select | NP_001080.2:p.Ser1681= |