Linked Data
dbSNP Id:
rs2283729
gnomAD v2:
X-43678042-G-A
gnomAD v3:
X-43818795-G-A
gnomAD v4:
X-43818795-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43818795G>A , CM000685.2:g.43818795G>A | GRCh38 |
| NC_000023.10:g.43678042G>A , CM000685.1:g.43678042G>A | GRCh37 |
| NC_000023.9:g.43562986G>A | NCBI36 |
| NG_008723.1:g.68680C>T | |
| NG_008723.2:g.68681C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378069.5:c.280-15391C>T MANE Select | ENSP00000367309.4:n.280-15391C>T | |
| ENST00000378069.4:c.280-15391C>T | ENSP00000367309.4:n.280-15391C>T | |
| ENST00000487544.1:n.606-15391C>T | ||
| NM_000898.4:c.280-15391C>T | NP_000889.3:n.280-15391C>T | |
| XM_005272607.3:c.232-15391C>T | XP_005272664.1:n.232-15391C>T | |
| XM_005272608.2:c.232-15391C>T | XP_005272665.1:n.232-15391C>T | |
| XM_011543914.1:c.142-15391C>T | XP_011542216.1:n.142-15391C>T | |
| XM_005272608.3:c.232-15391C>T | XP_005272665.1:n.232-15391C>T | |
| XM_017029523.1:c.232-15391C>T | XP_016885012.1:n.232-15391C>T | |
| XM_017029524.2:c.232-15391C>T | XP_016885013.1:n.232-15391C>T | |
| NM_000898.5:c.280-15391C>T MANE Select | NP_000889.3:n.280-15391C>T |