Linked Data
ClinVar Variation Id:
2063259
ClinVar RCV Id:
RCV002948321
dbSNP Id:
rs2083555170
gnomAD v3:
16-1984878-C-T
gnomAD v4:
16-1984878-C-T
MyVariant Identifiers:
chr16:g.2034879C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1984878C>T , CM000678.2:g.1984878C>T | GRCh38 |
| NC_000016.9:g.2034879C>T , CM000678.1:g.2034879C>T | GRCh37 |
| NC_000016.8:g.1974880C>T | NCBI36 |
| NG_016288.1:g.5730C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.165C>T | ENSP00000455885.1:p.Ala55= | |
| ENST00000248114.7:c.390C>T MANE Select | ENSP00000248114.6:p.Ala130= | |
| ENST00000248114.6:c.390C>T | ENSP00000248114.6:p.Ala130= | |
| ENST00000561710.1:c.351C>T | ENSP00000456189.1:p.Ala117= | |
| ENST00000565658.1:n.547C>T | ||
| ENST00000567719.1:c.165C>T | ENSP00000455885.1:p.Ala55= | |
| ENST00000569451.1:c.258+402C>T | ENSP00000456432.1:n.258+402C>T | |
| NM_005262.2:c.390C>T | NP_005253.3:p.Ala130= | |
| NM_005262.3:c.390C>T MANE Select | NP_005253.3:p.Ala130= |