Linked Data
ClinVar Variation Id:
1921220
ClinVar RCV Id:
RCV002608710
dbSNP Id:
rs28738719
ExAC:
16:2036002 C / T
gnomAD v2:
16-2036002-C-T
gnomAD v3:
16-1986001-C-T
gnomAD v4:
16-1986001-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986001C>T , CM000678.2:g.1986001C>T | GRCh38 |
| NC_000016.9:g.2036002C>T , CM000678.1:g.2036002C>T | GRCh37 |
| NC_000016.8:g.1976003C>T | NCBI36 |
| NG_016288.1:g.6853C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.366C>T | ENSP00000455885.1:p.Asp122= | |
| ENST00000248114.7:c.591C>T MANE Select | ENSP00000248114.6:p.Asp197= | |
| ENST00000248114.6:c.591C>T | ENSP00000248114.6:p.Asp197= | |
| ENST00000565658.1:n.748C>T | ||
| ENST00000567719.1:c.366C>T | ENSP00000455885.1:p.Asp122= | |
| ENST00000569451.1:c.*64C>T | ENSP00000456432.1:n.*64C>T | |
| NM_005262.2:c.591C>T | NP_005253.3:p.Asp197= | |
| NM_005262.3:c.591C>T MANE Select | NP_005253.3:p.Asp197= |