Linked Data
ClinVar Variation Id:
2147145
ClinVar RCV Id:
RCV003077040
dbSNP Id:
rs1286076100
gnomAD v3:
X-63724562-C-T
gnomAD v4:
X-63724562-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.63724562C>T , CM000685.2:g.63724562C>T | GRCh38 |
| NC_000023.10:g.62944442C>T , CM000685.1:g.62944442C>T | GRCh37 |
| NC_000023.9:g.62861167C>T | NCBI36 |
| NG_016975.1:g.65985G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000624538.2:c.96G>A | ENSP00000485282.2:p.Glu32= | |
| ENST00000635729.1:c.198G>A | ENSP00000490940.1:p.Glu66= | |
| ENST00000635967.1:c.96G>A | ENSP00000490691.1:p.Glu32= | |
| ENST00000636048.1:c.96G>A | ENSP00000490063.1:p.Glu32= | |
| ENST00000636102.1:c.96G>A | ENSP00000490693.1:p.Glu32= | |
| ENST00000636276.1:c.96G>A | ENSP00000490408.1:p.Glu32= | |
| ENST00000636392.1:c.96G>A | ENSP00000489853.1:p.Glu32= | |
| ENST00000636539.1:n.46G>A | ||
| ENST00000636926.1:c.159G>A | ENSP00000490667.1:p.Glu53= | |
| ENST00000637040.1:c.-203-11450G>A | ENSP00000490459.1:n.-203-11450G>A | |
| ENST00000637178.1:c.96G>A | ENSP00000489862.1:p.Glu32= | |
| ENST00000637391.1:n.31G>A | ||
| ENST00000637417.1:c.96G>A | ENSP00000490269.1:p.Glu32= | |
| ENST00000637520.1:c.96G>A | ENSP00000490123.1:p.Glu32= | |
| ENST00000637557.1:c.96G>A | ENSP00000490679.1:p.Glu32= | |
| ENST00000637723.2:c.96G>A | ENSP00000489637.2:p.Glu32= | |
| ENST00000638021.1:c.96G>A | ENSP00000490410.1:p.Glu32= | |
| ENST00000639092.1:c.96G>A | ENSP00000492318.1:p.Glu32= | |
| ENST00000671741.2:c.180G>A MANE Select | ENSP00000500715.1:p.Glu60= | |
| ENST00000671907.1:c.159G>A | ENSP00000500829.1:p.Glu53= | |
| ENST00000672194.1:c.-75-4706G>A | ENSP00000499905.1:n.-75-4706G>A | |
| ENST00000672467.1:n.249G>A | ||
| ENST00000672513.1:c.96G>A | ENSP00000500825.1:p.Glu32= | |
| ENST00000253401.10:c.159G>A | ENSP00000253401.6:p.Glu53= | |
| ENST00000374870.8:c.159G>A | ENSP00000364004.5:p.Glu53= | |
| ENST00000374872.4:c.96G>A | ENSP00000364006.1:p.Glu32= | |
| ENST00000374878.5:c.180G>A | ENSP00000364012.2:p.Glu60= | |
| ENST00000437457.6:c.180G>A | ENSP00000399994.3:p.Glu60= | |
| ENST00000495564.5:c.159G>A | ENSP00000485633.1:p.Glu53= | |
| ENST00000623417.3:c.-117-18113G>A | ENSP00000485083.1:n.-117-18113G>A | |
| ENST00000623517.3:c.31-18113G>A | ENSP00000485369.1:n.31-18113G>A | |
| ENST00000623566.3:c.96G>A | ENSP00000485559.1:p.Glu32= | |
| ENST00000624210.3:c.96G>A | ENSP00000485144.1:p.Glu32= | |
| ENST00000624355.1:c.96G>A | ENSP00000485327.1:p.Glu32= | |
| ENST00000624387.3:n.330G>A | ||
| ENST00000624538.1:c.96G>A | ENSP00000485282.1:p.Glu32= | |
| ENST00000624843.3:c.-117-18113G>A | ENSP00000485626.1:n.-117-18113G>A | |
| ENST00000625116.3:c.-117-18113G>A | ENSP00000485160.1:n.-117-18113G>A | |
| NM_001173479.1:c.31-18113G>A | NP_001166950.1:n.31-18113G>A | |
| NM_001173480.1:c.-117-18113G>A | NP_001166951.1:n.-117-18113G>A | |
| NM_015185.2:c.159G>A | NP_056000.1:p.Glu53= | |
| XM_005262249.1:c.180G>A | XP_005262306.1:p.Glu60= | |
| XM_005262250.3:c.96G>A | XP_005262307.1:p.Glu32= | |
| XM_005262251.1:c.96G>A | XP_005262308.1:p.Glu32= | |
| XM_005262252.1:c.96G>A | XP_005262309.1:p.Glu32= | |
| XM_011530890.1:c.159G>A | XP_011529192.1:p.Glu53= | |
| XM_011530891.1:c.96G>A | XP_011529193.1:p.Glu32= | |
| XM_011530892.1:c.10-18113G>A | XP_011529194.1:n.10-18113G>A | |
| NM_001330495.1:c.96G>A | NP_001317424.1:p.Glu32= | |
| NM_001353921.1:c.180G>A | NP_001340850.1:p.Glu60= | |
| NM_001353922.1:c.180G>A | NP_001340851.1:p.Glu60= | |
| NM_001353923.1:c.198G>A | NP_001340852.1:p.Glu66= | |
| NM_001353924.1:c.10-18113G>A | NP_001340853.1:n.10-18113G>A | |
| NM_001353926.1:c.10-18113G>A | NP_001340855.1:n.10-18113G>A | |
| NM_001353927.1:c.96G>A | NP_001340856.1:p.Glu32= | |
| NM_001353928.1:c.159G>A | NP_001340857.1:p.Glu53= | |
| XM_005262250.4:c.96G>A | XP_005262307.1:p.Glu32= | |
| XM_017029364.1:c.174G>A | XP_016884853.1:p.Glu58= | |
| XM_017029366.1:c.159G>A | XP_016884855.1:p.Glu53= | |
| XM_017029367.1:c.96G>A | XP_016884856.1:p.Glu32= | |
| XM_017029368.2:c.96G>A | XP_016884857.1:p.Glu32= | |
| XM_017029372.1:c.96G>A | XP_016884861.1:p.Glu32= | |
| XM_017029373.2:c.-284G>A | XP_016884862.1:n.-284G>A | |
| XM_017029374.2:c.10-18113G>A | XP_016884863.1:n.10-18113G>A | |
| XM_017029377.2:c.159G>A | XP_016884866.1:p.Glu53= | |
| XM_017029378.2:c.180G>A | XP_016884867.1:p.Glu60= | |
| XM_017029379.1:c.96G>A | XP_016884868.1:p.Glu32= | |
| XM_017029380.2:c.10-18113G>A | XP_016884869.1:n.10-18113G>A | |
| XM_024452356.1:c.153G>A | XP_024308124.1:p.Glu51= | |
| XM_024452357.1:c.96G>A | XP_024308125.1:p.Glu32= | |
| XM_024452358.1:c.96G>A | XP_024308126.1:p.Glu32= | |
| NM_001173479.2:c.31-18113G>A | NP_001166950.1:n.31-18113G>A | |
| NM_001173480.2:c.-117-18113G>A | NP_001166951.1:n.-117-18113G>A | |
| NM_001330495.2:c.96G>A | NP_001317424.1:p.Glu32= | |
| NM_001353921.2:c.180G>A MANE Select | NP_001340850.1:p.Glu60= | |
| NM_001353922.2:c.180G>A | NP_001340851.1:p.Glu60= | |
| NM_001353924.2:c.10-18113G>A | NP_001340853.1:n.10-18113G>A | |
| NM_001353926.2:c.10-18113G>A | NP_001340855.1:n.10-18113G>A | |
| NM_001353927.2:c.96G>A | NP_001340856.1:p.Glu32= | |
| NM_001353928.2:c.159G>A | NP_001340857.1:p.Glu53= | |
| NM_001369030.1:c.159G>A | NP_001355959.1:p.Glu53= | |
| NM_001369031.1:c.159G>A | NP_001355960.1:p.Glu53= | |
| NM_001369032.1:c.159G>A | NP_001355961.1:p.Glu53= | |
| NM_001369033.1:c.96G>A | NP_001355962.1:p.Glu32= | |
| NM_001369034.1:c.96G>A | NP_001355963.1:p.Glu32= | |
| NM_001369035.1:c.96G>A | NP_001355964.1:p.Glu32= | |
| NM_001369036.1:c.96G>A | NP_001355965.1:p.Glu32= | |
| NM_001369037.1:c.96G>A | NP_001355966.1:p.Glu32= | |
| NM_001369038.1:c.96G>A | NP_001355967.1:p.Glu32= | |
| NM_001369039.1:c.10-18113G>A | NP_001355968.1:n.10-18113G>A | |
| NM_001369040.1:c.10-18113G>A | NP_001355969.1:n.10-18113G>A | |
| NM_001369041.1:c.96G>A | NP_001355970.1:p.Glu32= | |
| NM_001369042.1:c.-284G>A | NP_001355971.1:n.-284G>A | |
| NM_001369043.1:c.96G>A | NP_001355972.1:p.Glu32= | |
| NM_001369044.1:c.96G>A | NP_001355973.1:p.Glu32= | |
| NM_001369045.1:c.-524G>A | NP_001355974.1:n.-524G>A | |
| NM_015185.3:c.159G>A | NP_056000.1:p.Glu53= |