Linked Data
ClinVar Variation Id:
523425
ClinVar RCV Id:
RCV000626784
dbSNP Id:
rs766499924
ExAC:
X:30746860 A / G
gnomAD v2:
X-30746860-A-G
gnomAD v3:
X-30728743-A-G
gnomAD v4:
X-30728743-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30728743A>G , CM000685.2:g.30728743A>G | GRCh38 |
| NC_000023.10:g.30746860A>G , CM000685.1:g.30746860A>G | GRCh37 |
| NC_000023.9:g.30656781A>G | NCBI36 |
| NG_008178.1:g.80385A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692461.1:c.*1A>G | ENSP00000509378.1:n.*1A>G | |
| ENST00000427190.6:c.*1A>G MANE Select | ENSP00000401720.2:n.*1A>G | |
| ENST00000479048.6:c.*1297A>G | ENSP00000420676.1:n.*1297A>G | |
| ENST00000378943.7:c.*1A>G | ENSP00000368226.3:n.*1A>G | |
| ENST00000378945.7:c.*1A>G | ENSP00000368228.3:n.*1A>G | |
| ENST00000378946.7:c.*1A>G | ENSP00000368229.3:n.*1A>G | |
| ENST00000427190.5:c.*1A>G | ENSP00000401720.2:n.*1A>G | |
| ENST00000481024.5:c.*1537A>G | ENSP00000418873.1:n.*1537A>G | |
| NM_000167.5:c.*1A>G | NP_000158.1:n.*1A>G | |
| NM_001128127.2:c.*1A>G | NP_001121599.1:n.*1A>G | |
| NM_001205019.1:c.*1A>G | NP_001191948.1:n.*1A>G | |
| NM_203391.3:c.*1A>G | NP_976325.1:n.*1A>G | |
| XM_005274488.3:c.*1A>G | XP_005274545.1:n.*1A>G | |
| XM_006724483.2:c.*1A>G | XP_006724546.1:n.*1A>G | |
| XM_006724484.2:c.*1A>G | XP_006724547.1:n.*1A>G | |
| XM_006724485.2:c.*1A>G | XP_006724548.1:n.*1A>G | |
| XM_006724486.2:c.*1A>G | XP_006724549.1:n.*1A>G | |
| XM_011545491.1:c.*1A>G | XP_011543793.1:n.*1A>G | |
| XM_011545492.1:c.*1A>G | XP_011543794.1:n.*1A>G | |
| XM_011545493.1:c.*1A>G | XP_011543795.1:n.*1A>G | |
| XM_011545494.1:c.*1A>G | XP_011543796.1:n.*1A>G | |
| XM_005274488.4:c.*1A>G | XP_005274545.1:n.*1A>G | |
| XM_006724486.3:c.*1A>G | XP_006724549.1:n.*1A>G | |
| XM_011545491.2:c.*1A>G | XP_011543793.1:n.*1A>G | |
| XM_011545493.2:c.*1A>G | XP_011543795.1:n.*1A>G | |
| XM_011545494.2:c.*1A>G | XP_011543796.1:n.*1A>G | |
| XM_017029409.1:c.*1A>G | XP_016884898.1:n.*1A>G | |
| XM_017029410.1:c.*1A>G | XP_016884899.1:n.*1A>G | |
| XM_017029411.1:c.*1A>G | XP_016884900.1:n.*1A>G | |
| XM_017029412.2:c.*1A>G | XP_016884901.1:n.*1A>G | |
| NM_000167.6:c.*1A>G | NP_000158.1:n.*1A>G | |
| NM_001128127.3:c.*1A>G | NP_001121599.1:n.*1A>G | |
| NM_001205019.2:c.*1A>G MANE Select | NP_001191948.1:n.*1A>G | |
| NM_203391.4:c.*1A>G | NP_976325.1:n.*1A>G | |
| NM_001399987.1:c.*1A>G | NP_001386916.1:n.*1A>G | |
| NR_174369.1:n.1961A>G | ||
| NR_174370.1:n.1689A>G | ||
| NR_174371.1:n.1615A>G | ||
| NR_174372.1:n.1597A>G | ||
| NR_174373.1:n.1584A>G | ||
| NR_174374.1:n.1528A>G | ||
| NR_174375.1:n.1510A>G |