Linked Data
dbSNP Id:
rs1479484434
gnomAD v2:
X-25031008-C-A
gnomAD v3:
X-25012891-C-A
gnomAD v4:
X-25012891-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25012891C>A , CM000685.2:g.25012891C>A | GRCh38 |
| NC_000023.10:g.25031008C>A , CM000685.1:g.25031008C>A | GRCh37 |
| NC_000023.9:g.24940929C>A | NCBI36 |
| NG_008281.1:g.8058G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1073+31G>T MANE Select | ENSP00000368332.4:n.1073+31G>T | |
| ENST00000379044.4:c.1073+31G>T | ENSP00000368332.4:n.1073+31G>T | |
| NM_139058.2:c.1073+31G>T | NP_620689.1:n.1073+31G>T | |
| NM_139058.3:c.1073+31G>T MANE Select | NP_620689.1:n.1073+31G>T |