Linked Data
ClinVar Variation Id:
700263
ClinVar RCV Id:
RCV000868379
dbSNP Id:
rs759009252
ExAC:
X:25025219 G / T
gnomAD v2:
X-25025219-G-T
gnomAD v3:
X-25007102-G-T
gnomAD v4:
X-25007102-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007102G>T , CM000685.2:g.25007102G>T | GRCh38 |
| NC_000023.10:g.25025219G>T , CM000685.1:g.25025219G>T | GRCh37 |
| NC_000023.9:g.24935140G>T | NCBI36 |
| NG_008281.1:g.13847C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1448+9C>A MANE Select | ENSP00000368332.4:n.1448+9C>A | |
| ENST00000637993.1:c.61+9C>A | ||
| ENST00000379044.4:c.1448+9C>A | ENSP00000368332.4:n.1448+9C>A | |
| NM_139058.2:c.1448+9C>A | NP_620689.1:n.1448+9C>A | |
| NM_139058.3:c.1448+9C>A MANE Select | NP_620689.1:n.1448+9C>A |