Linked Data
dbSNP Id:
rs772646484
gnomAD v2:
X-69247542-A-G
gnomAD v3:
X-70027692-A-G
gnomAD v4:
X-70027692-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70027692A>G , CM000685.2:g.70027692A>G | GRCh38 |
| NC_000023.10:g.69247542A>G , CM000685.1:g.69247542A>G | GRCh37 |
| NC_000023.9:g.69164267A>G | NCBI36 |
| NG_009809.1:g.416632A>G | |
| NG_009809.2:g.416626A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.527-165A>G MANE Select | ENSP00000363680.4:n.527-165A>G | |
| ENST00000374552.8:c.527-165A>G | ENSP00000363680.4:n.527-165A>G | |
| ENST00000374553.6:c.527-165A>G | ENSP00000363681.2:n.527-165A>G | |
| ENST00000503592.5:c.131-165A>G | ENSP00000423037.1:n.131-165A>G | |
| ENST00000524573.5:c.527-165A>G | ENSP00000432585.1:n.527-165A>G | |
| ENST00000616899.1:c.131-165A>G | ENSP00000481963.1:n.131-165A>G | |
| NM_001005609.1:c.527-165A>G | NP_001005609.1:n.527-165A>G | |
| NM_001005612.2:c.527-165A>G | NP_001005612.2:n.527-165A>G | |
| NM_001399.4:c.527-165A>G | NP_001390.1:n.527-165A>G | |
| XM_006724630.2:c.527-165A>G | XP_006724693.1:n.527-165A>G | |
| XM_011530885.1:c.527-165A>G | XP_011529187.1:n.527-165A>G | |
| XM_011530885.2:c.527-165A>G | XP_011529187.1:n.527-165A>G | |
| XM_017029336.1:c.527-165A>G | XP_016884825.1:n.527-165A>G | |
| NM_001399.5:c.527-165A>G MANE Select | NP_001390.1:n.527-165A>G | |
| NM_001005609.2:c.527-165A>G | NP_001005609.1:n.527-165A>G | |
| NM_001005612.3:c.527-165A>G | NP_001005612.2:n.527-165A>G |