Linked Data
gnomAD v4:
16-1985866-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985866G>A , CM000678.2:g.1985866G>A | GRCh38 |
| NC_000016.9:g.2035867G>A , CM000678.1:g.2035867G>A | GRCh37 |
| NC_000016.8:g.1975868G>A | NCBI36 |
| NG_016288.1:g.6718G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.231G>A | ENSP00000455885.1:p.Arg77= | |
| ENST00000248114.7:c.456G>A MANE Select | ENSP00000248114.6:p.Arg152= | |
| ENST00000248114.6:c.456G>A | ENSP00000248114.6:p.Arg152= | |
| ENST00000565658.1:n.613G>A | ||
| ENST00000567719.1:c.231G>A | ENSP00000455885.1:p.Arg77= | |
| ENST00000569451.1:c.259G>A | ENSP00000456432.1:p.Ala87Thr | |
| NM_005262.2:c.456G>A | NP_005253.3:p.Arg152= | |
| NM_005262.3:c.456G>A MANE Select | NP_005253.3:p.Arg152= |