Linked Data
dbSNP Id:
rs747717989
ExAC:
X:21997096 C / G
gnomAD v2:
X-21997096-C-G
gnomAD v4:
X-21978978-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21978978C>G , CM000685.2:g.21978978C>G | GRCh38 |
| NC_000023.10:g.21997096C>G , CM000685.1:g.21997096C>G | GRCh37 |
| NC_000023.9:g.21907017C>G | NCBI36 |
| NG_009228.1:g.43255C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404933.7:c.750+12C>G MANE Select | ENSP00000385746.2:n.750+12C>G | |
| ENST00000379404.5:c.591+12C>G | ENSP00000368714.1:n.591+12C>G | |
| ENST00000404933.6:c.750+12C>G | ENSP00000385746.2:n.750+12C>G | |
| NM_001258423.1:c.591+12C>G | NP_001245352.1:n.591+12C>G | |
| NM_004595.4:c.750+12C>G | NP_004586.2:n.750+12C>G | |
| XM_005274582.1:c.648+12C>G | XP_005274639.1:n.648+12C>G | |
| XM_011545568.1:c.648+12C>G | XP_011543870.1:n.648+12C>G | |
| XM_005274582.2:c.648+12C>G | XP_005274639.1:n.648+12C>G | |
| XM_011545568.2:c.648+12C>G | XP_011543870.1:n.648+12C>G | |
| XM_017029753.2:c.750+12C>G | XP_016885242.1:n.750+12C>G | |
| XM_017029754.1:c.648+12C>G | XP_016885243.1:n.648+12C>G | |
| XM_017029755.1:c.648+12C>G | XP_016885244.1:n.648+12C>G | |
| XM_024452427.1:c.648+12C>G | XP_024308195.1:n.648+12C>G | |
| NM_004595.5:c.750+12C>G MANE Select | NP_004586.2:n.750+12C>G | |
| NM_001258423.2:c.591+12C>G | NP_001245352.1:n.591+12C>G |