Linked Data
ClinVar Variation Id:
379569
ClinVar RCV Id:
RCV000433135
dbSNP Id:
rs1057520647
gnomAD v4:
X-30694499-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30694499C>T , CM000685.2:g.30694499C>T | GRCh38 |
| NC_000023.10:g.30712616C>T , CM000685.1:g.30712616C>T | GRCh37 |
| NC_000023.9:g.30622537C>T | NCBI36 |
| NG_008178.1:g.46141C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000692461.1:c.598C>T | ENSP00000509378.1:p.Arg200Ter | |
| ENST00000427190.6:c.514C>T MANE Select | ENSP00000401720.2:p.Arg172Ter | |
| ENST00000479048.6:c.*167C>T | ENSP00000420676.1:n.*167C>T | |
| ENST00000378943.7:c.514C>T | ENSP00000368226.3:p.Arg172Ter | |
| ENST00000378945.7:c.514C>T | ENSP00000368228.3:p.Arg172Ter | |
| ENST00000378946.7:c.514C>T | ENSP00000368229.3:p.Arg172Ter | |
| ENST00000425166.1:c.271C>T | ENSP00000404682.1:p.Arg91Ter | |
| ENST00000427190.5:c.514C>T | ENSP00000401720.2:p.Arg172Ter | |
| ENST00000471362.5:c.*57C>T | ENSP00000417942.1:n.*57C>T | |
| ENST00000479048.5:c.*167C>T | ENSP00000420676.1:n.*167C>T | |
| ENST00000481024.5:c.*370C>T | ENSP00000418873.1:n.*370C>T | |
| ENST00000487652.5:c.*219C>T | ENSP00000419332.1:n.*219C>T | |
| ENST00000488296.1:c.334C>T | ENSP00000419771.1:n.334C>T | |
| NM_000167.5:c.514C>T | NP_000158.1:p.Arg172Ter | |
| NM_001128127.2:c.514C>T | NP_001121599.1:p.Arg172Ter | |
| NM_001205019.1:c.514C>T | NP_001191948.1:p.Arg172Ter | |
| NM_203391.3:c.514C>T | NP_976325.1:p.Arg172Ter | |
| XM_005274488.3:c.-102C>T | XP_005274545.1:n.-102C>T | |
| XM_006724483.2:c.598C>T | XP_006724546.1:p.Arg200Ter | |
| XM_006724484.2:c.598C>T | XP_006724547.1:p.Arg200Ter | |
| XM_006724485.2:c.-102C>T | XP_006724548.1:n.-102C>T | |
| XM_006724486.2:c.-102C>T | XP_006724549.1:n.-102C>T | |
| XM_011545491.1:c.598C>T | XP_011543793.1:p.Arg200Ter | |
| XM_011545492.1:c.598C>T | XP_011543794.1:p.Arg200Ter | |
| XM_011545493.1:c.-102C>T | XP_011543795.1:n.-102C>T | |
| XM_011545494.1:c.-102C>T | XP_011543796.1:n.-102C>T | |
| XM_005274488.4:c.-102C>T | XP_005274545.1:n.-102C>T | |
| XM_006724486.3:c.-102C>T | XP_006724549.1:n.-102C>T | |
| XM_011545491.2:c.598C>T | XP_011543793.1:p.Arg200Ter | |
| XM_011545493.2:c.-102C>T | XP_011543795.1:n.-102C>T | |
| XM_011545494.2:c.-102C>T | XP_011543796.1:n.-102C>T | |
| XM_017029409.1:c.-102C>T | XP_016884898.1:n.-102C>T | |
| XM_017029410.1:c.-102C>T | XP_016884899.1:n.-102C>T | |
| XM_017029411.1:c.-102C>T | XP_016884900.1:n.-102C>T | |
| XM_017029412.2:c.-102C>T | XP_016884901.1:n.-102C>T | |
| NM_000167.6:c.514C>T | NP_000158.1:p.Arg172Ter | |
| NM_001128127.3:c.514C>T | NP_001121599.1:p.Arg172Ter | |
| NM_001205019.2:c.514C>T MANE Select | NP_001191948.1:p.Arg172Ter | |
| NM_203391.4:c.514C>T | NP_976325.1:p.Arg172Ter | |
| NM_001399987.1:c.598C>T | NP_001386916.1:p.Arg200Ter | |
| NR_174369.1:n.794C>T | ||
| NR_174370.1:n.522C>T | ||
| NR_174371.1:n.448C>T | ||
| NR_174372.1:n.448C>T | ||
| NR_174373.1:n.522C>T | ||
| NR_174374.1:n.448C>T | ||
| NR_174375.1:n.448C>T |