Linked Data
gnomAD v4:
12-48981567-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981567G>A , CM000674.2:g.48981567G>A | GRCh38 |
| NC_000012.11:g.49375350G>A , CM000674.1:g.49375350G>A | GRCh37 |
| NC_000012.10:g.47661617G>A | NCBI36 |
| NG_033141.1:g.8115G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.1040G>A MANE Select | ENSP00000293549.3:p.Cys347Tyr | |
| ENST00000293549.3:c.1040G>A | ENSP00000293549.3:p.Cys347Tyr | |
| ENST00000613114.4:c.1007G>A | ENSP00000481240.1:p.Cys336Tyr | |
| NM_005430.3:c.1040G>A | NP_005421.1:p.Cys347Tyr | |
| NM_005430.4:c.1040G>A MANE Select | NP_005421.1:p.Cys347Tyr |