Linked Data
gnomAD v4:
X-68829816-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829816G>A , CM000685.2:g.68829816G>A | GRCh38 |
| NC_000023.10:g.68049659G>A , CM000685.1:g.68049659G>A | GRCh37 |
| NC_000023.9:g.67966384G>A | NCBI36 |
| NG_008887.1:g.5820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.40G>A MANE Select | ENSP00000204961.4:p.Val14Met | |
| ENST00000204961.4:c.40G>A | ENSP00000204961.4:p.Val14Met | |
| NM_004429.4:c.40G>A | NP_004420.1:p.Val14Met | |
| NM_004429.5:c.40G>A MANE Select | NP_004420.1:p.Val14Met |