Linked Data
dbSNP Id:
rs771709778
ExAC:
X:69253409 A / G
gnomAD v2:
X-69253409-A-G
gnomAD v4:
X-70033559-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70033559A>G , CM000685.2:g.70033559A>G | GRCh38 |
| NC_000023.10:g.69253409A>G , CM000685.1:g.69253409A>G | GRCh37 |
| NC_000023.9:g.69170134A>G | NCBI36 |
| NG_009809.1:g.422499A>G | |
| NG_009809.2:g.422493A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.924+31A>G MANE Select | ENSP00000363680.4:n.924+31A>G | |
| ENST00000374552.8:c.924+31A>G | ENSP00000363680.4:n.924+31A>G | |
| ENST00000374553.6:c.918+37A>G | ENSP00000363681.2:n.918+37A>G | |
| ENST00000524573.5:c.909+37A>G | ENSP00000432585.1:n.909+37A>G | |
| ENST00000616899.1:c.528+31A>G | ENSP00000481963.1:n.528+31A>G | |
| NM_001005609.1:c.918+37A>G | NP_001005609.1:n.918+37A>G | |
| NM_001005612.2:c.909+37A>G | NP_001005612.2:n.909+37A>G | |
| NM_001399.4:c.924+31A>G | NP_001390.1:n.924+31A>G | |
| XM_006724630.2:c.915+31A>G | XP_006724693.1:n.915+31A>G | |
| XM_011530885.1:c.918+37A>G | XP_011529187.1:n.918+37A>G | |
| XM_011530885.2:c.918+37A>G | XP_011529187.1:n.918+37A>G | |
| XM_017029336.1:c.882+73A>G | XP_016884825.1:n.882+73A>G | |
| NM_001399.5:c.924+31A>G MANE Select | NP_001390.1:n.924+31A>G | |
| NM_001005609.2:c.918+37A>G | NP_001005609.1:n.918+37A>G | |
| NM_001005612.3:c.909+37A>G | NP_001005612.2:n.909+37A>G |