Linked Data
ClinVar Variation Id:
2939171
ClinVar RCV Id:
RCV003791897
dbSNP Id:
rs1444075777
gnomAD v2:
X-25023031-C-T
gnomAD v3:
X-25004914-C-T
gnomAD v4:
X-25004914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004914C>T , CM000685.2:g.25004914C>T | GRCh38 |
| NC_000023.10:g.25023031C>T , CM000685.1:g.25023031C>T | GRCh37 |
| NC_000023.9:g.24932952C>T | NCBI36 |
| NG_008281.1:g.16035G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1449-4G>A MANE Select | ENSP00000368332.4:n.1449-4G>A | |
| ENST00000636885.1:n.37-4G>A | ||
| ENST00000379044.4:c.1449-4G>A | ENSP00000368332.4:n.1449-4G>A | |
| NM_139058.2:c.1449-4G>A | NP_620689.1:n.1449-4G>A | |
| NM_139058.3:c.1449-4G>A MANE Select | NP_620689.1:n.1449-4G>A |