Linked Data
dbSNP Id:
rs747482644
ExAC:
16:2036047 C / A
gnomAD v2:
16-2036047-C-A
gnomAD v3:
16-1986046-C-A
gnomAD v4:
16-1986046-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986046C>A , CM000678.2:g.1986046C>A | GRCh38 |
| NC_000016.9:g.2036047C>A , CM000678.1:g.2036047C>A | GRCh37 |
| NC_000016.8:g.1976048C>A | NCBI36 |
| NG_016288.1:g.6898C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.*18C>A | ENSP00000455885.1:n.*18C>A | |
| ENST00000248114.7:c.*18C>A MANE Select | ENSP00000248114.6:n.*18C>A | |
| ENST00000248114.6:c.*18C>A | ENSP00000248114.6:n.*18C>A | |
| ENST00000565658.1:n.793C>A | ||
| ENST00000567719.1:c.*18C>A | ENSP00000455885.1:n.*18C>A | |
| ENST00000569451.1:c.*109C>A | ENSP00000456432.1:n.*109C>A | |
| NM_005262.2:c.*18C>A | NP_005253.3:n.*18C>A | |
| NM_005262.3:c.*18C>A MANE Select | NP_005253.3:n.*18C>A |