Linked Data
gnomAD v4:
16-1986021-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986021G>A , CM000678.2:g.1986021G>A | GRCh38 |
| NC_000016.9:g.2036022G>A , CM000678.1:g.2036022G>A | GRCh37 |
| NC_000016.8:g.1976023G>A | NCBI36 |
| NG_016288.1:g.6873G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.386G>A | ENSP00000455885.1:p.Cys129Tyr | |
| ENST00000248114.7:c.611G>A MANE Select | ENSP00000248114.6:p.Cys204Tyr | |
| ENST00000248114.6:c.611G>A | ENSP00000248114.6:p.Cys204Tyr | |
| ENST00000565658.1:n.768G>A | ||
| ENST00000567719.1:c.386G>A | ENSP00000455885.1:p.Cys129Tyr | |
| ENST00000569451.1:c.*84G>A | ENSP00000456432.1:n.*84G>A | |
| NM_005262.2:c.611G>A | NP_005253.3:p.Cys204Tyr | |
| NM_005262.3:c.611G>A MANE Select | NP_005253.3:p.Cys204Tyr |