Linked Data
dbSNP Id:
rs1556614612
gnomAD v2:
X-135067448-C-G
gnomAD v3:
X-135985289-C-G
gnomAD v4:
X-135985289-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.135985289C>G , CM000685.2:g.135985289C>G | GRCh38 |
| NC_000023.10:g.135067448C>G , CM000685.1:g.135067448C>G | GRCh37 |
| NC_000023.9:g.134895114C>G | NCBI36 |
| NG_017160.1:g.4863C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370701.6:c.-245C>G | ENSP00000359735.1:n.-245C>G | |
| ENST00000636092.1:c.-56-314C>G | ENSP00000490406.1:n.-56-314C>G | |
| ENST00000636347.1:c.-35-335C>G | ENSP00000490648.1:n.-35-335C>G | |
| ENST00000637195.1:c.-35-335C>G | ENSP00000490330.1:n.-35-335C>G | |
| ENST00000637234.1:c.-56-314C>G | ENSP00000490527.1:n.-56-314C>G | |
| ENST00000637581.1:c.-56-314C>G | ENSP00000490731.1:n.-56-314C>G | |
| XM_017029223.2:c.-56-314C>G | XP_016884712.1:n.-56-314C>G | |
| XM_017029224.1:c.-56-314C>G | XP_016884713.1:n.-56-314C>G | |
| NM_001400909.1:c.-35-335C>G | NP_001387838.1:n.-35-335C>G | |
| NM_001400910.1:c.-56-314C>G | NP_001387839.1:n.-56-314C>G | |
| NM_001400911.1:c.-56-314C>G | NP_001387840.1:n.-56-314C>G |