Linked Data
ClinVar Variation Id:
10948
ClinVar RCV Id:
RCV000011695
dbSNP Id:
rs132630331
gnomAD v4:
X-30707584-A-G
PubMed:
PMID:10736265
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30707584A>G , CM000685.2:g.30707584A>G | GRCh38 |
| NC_000023.10:g.30725701A>G , CM000685.1:g.30725701A>G | GRCh37 |
| NC_000023.9:g.30635622A>G | NCBI36 |
| NG_008178.1:g.59226A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000692461.1:c.946A>G (GK) | ENSP00000509378.1:p.Asn316Asp | |
| ENST00000427190.6:c.880A>G (GK) MANE Select | ENSP00000401720.2:p.Asn294Asp | |
| ENST00000479048.6:c.*583A>G (GK) | ENSP00000420676.1:n.*583A>G | |
| ENST00000378943.7:c.862A>G (GK) | ENSP00000368226.3:p.Asn288Asp | |
| ENST00000378945.7:c.862A>G (GK) | ENSP00000368228.3:p.Asn288Asp | |
| ENST00000378946.7:c.880A>G (GK) | ENSP00000368229.3:p.Asn294Asp | |
| ENST00000427190.5:c.880A>G (GK) | ENSP00000401720.2:p.Asn294Asp | |
| ENST00000481024.5:c.*736A>G (GK) | ENSP00000418873.1:n.*736A>G | |
| NM_000167.5:c.862A>G (GK) | NP_000158.1:p.Asn288Asp | |
| NM_001128127.2:c.862A>G (GK) | NP_001121599.1:p.Asn288Asp | |
| NM_001205019.1:c.880A>G (GK) | NP_001191948.1:p.Asn294Asp | |
| NM_203391.3:c.880A>G (GK) | NP_976325.1:p.Asn294Asp | |
| XM_005274488.3:c.247A>G (GK) | XP_005274545.1:p.Asn83Asp | |
| XM_006724483.2:c.946A>G (GK) | XP_006724546.1:p.Asn316Asp | |
| XM_006724484.2:c.946A>G (GK) | XP_006724547.1:p.Asn316Asp | |
| XM_006724485.2:c.265A>G (GK) | XP_006724548.1:p.Asn89Asp | |
| XM_006724486.2:c.265A>G (GK) | XP_006724549.1:p.Asn89Asp | |
| XM_011545491.1:c.964A>G (GK) | XP_011543793.1:p.Asn322Asp | |
| XM_011545492.1:c.964A>G (GK) | XP_011543794.1:p.Asn322Asp | |
| XM_011545493.1:c.265A>G (GK) | XP_011543795.1:p.Asn89Asp | |
| XM_011545494.1:c.265A>G (GK) | XP_011543796.1:p.Asn89Asp | |
| XM_005274488.4:c.247A>G (GK) | XP_005274545.1:p.Asn83Asp | |
| XM_006724486.3:c.265A>G (GK) | XP_006724549.1:p.Asn89Asp | |
| XM_011545491.2:c.964A>G (GK) | XP_011543793.1:p.Asn322Asp | |
| XM_011545493.2:c.265A>G (GK) | XP_011543795.1:p.Asn89Asp | |
| XM_011545494.2:c.265A>G (GK) | XP_011543796.1:p.Asn89Asp | |
| XM_017029409.1:c.265A>G (GK) | XP_016884898.1:p.Asn89Asp | |
| XM_017029410.1:c.265A>G (GK) | XP_016884899.1:p.Asn89Asp | |
| XM_017029411.1:c.247A>G (GK) | XP_016884900.1:p.Asn83Asp | |
| XM_017029412.2:c.247A>G (GK) | XP_016884901.1:p.Asn83Asp | |
| NM_000167.6:c.862A>G (GK) | NP_000158.1:p.Asn288Asp | |
| NM_001128127.3:c.862A>G (GK) | NP_001121599.1:p.Asn288Asp | |
| NM_001205019.2:c.880A>G (GK) MANE Select | NP_001191948.1:p.Asn294Asp | |
| NM_203391.4:c.880A>G (GK) | NP_976325.1:p.Asn294Asp | |
| NR_046603.1:n.10516T>C (GK-AS1) | ||
| NM_001399987.1:c.946A>G (GK) | NP_001386916.1:p.Asn316Asp | |
| NR_174369.1:n.1160A>G (GK) | ||
| NR_174370.1:n.888A>G (GK) | ||
| NR_174371.1:n.814A>G (GK) | ||
| NR_174372.1:n.796A>G (GK) | ||
| NR_174373.1:n.870A>G (GK) | ||
| NR_174374.1:n.814A>G (GK) | ||
| NR_174375.1:n.796A>G (GK) |