Linked Data
gnomAD v4:
X-74529450-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74529450G>A , CM000685.2:g.74529450G>A | GRCh38 |
| NC_000023.10:g.73749285G>A , CM000685.1:g.73749285G>A | GRCh37 |
| NC_000023.9:g.73666010G>A | NCBI36 |
| NG_011641.1:g.113201G>A | |
| NG_011641.2:g.113201G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.1399+9G>A MANE Select | ENSP00000465734.1:n.1399+9G>A | |
| ENST00000636771.1:c.1308+9G>A | ||
| ENST00000587091.5:c.1399+9G>A | ENSP00000465734.1:n.1399+9G>A | |
| ENST00000590447.1:c.611-1883G>A | ||
| NM_006517.4:c.1399+9G>A | NP_006508.2:n.1399+9G>A | |
| XM_005262294.1:c.1171-1883G>A | XP_005262351.1:n.1171-1883G>A | |
| NM_006517.5:c.1399+9G>A MANE Select | NP_006508.2:n.1399+9G>A |