Linked Data
ClinVar Variation Id:
197992
dbSNP Id:
rs746514008
ExAC:
X:31525562 T / C
gnomAD v2:
X-31525562-T-C
gnomAD v3:
X-31507445-T-C
gnomAD v4:
X-31507445-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31507445T>C , CM000685.2:g.31507445T>C | GRCh38 |
| NC_000023.10:g.31525562T>C , CM000685.1:g.31525562T>C | GRCh37 |
| NC_000023.9:g.31435483T>C | NCBI36 |
| NG_012232.1:g.1837165A>G , LRG_199:g.1837165A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.3072A>G | ENSP00000350765.3:p.Gln1024= | |
| ENST00000682238.1:c.846A>G | ENSP00000508124.1:p.Gln282= | |
| ENST00000683450.1:n.1691A>G | ||
| ENST00000683957.1:n.1718A>G | ||
| ENST00000684130.1:c.846A>G | ENSP00000508037.1:p.Gln282= | |
| ENST00000343523.7:c.81A>G | ENSP00000340057.4:p.Gln27= | |
| ENST00000357033.9:c.8226A>G MANE Select | ENSP00000354923.3:p.Gln2742= | |
| ENST00000619831.5:c.4194A>G | ENSP00000479270.2:p.Gln1398= | |
| ENST00000620040.5:c.846A>G | ENSP00000478150.2:p.Gln282= | |
| ENST00000680961.1:c.846A>G | ENSP00000506386.1:p.Gln282= | |
| ENST00000681646.1:n.1887A>G | ||
| ENST00000343523.6:c.39A>G | ENSP00000340057.3:p.Gln13= | |
| ENST00000357033.8:c.8226A>G | ENSP00000354923.3:p.Gln2742= | |
| ENST00000358062.6:c.1314A>G | ENSP00000350765.2:p.Gln438= | |
| ENST00000359836.5:c.846A>G | ENSP00000352894.1:p.Gln282= | |
| ENST00000378677.6:c.8214A>G | ENSP00000367948.2:p.Gln2738= | |
| ENST00000378707.7:c.846A>G | ENSP00000367979.3:p.Gln282= | |
| ENST00000445312.1:n.283A>G | ||
| ENST00000474231.5:c.846A>G | ENSP00000417123.1:p.Gln282= | |
| ENST00000541735.5:c.846A>G | ENSP00000444119.1:p.Gln282= | |
| ENST00000619831.4:c.8211A>G | ENSP00000479270.1:p.Gln2737= | |
| ENST00000620040.4:c.8223A>G | ENSP00000478150.1:p.Gln2741= | |
| NM_000109.3:c.8202A>G | NP_000100.2:p.Gln2734= | |
| NM_004006.2:c.8226A>G , LRG_199t1:c.8226A>G | NP_003997.1:p.Gln2742= | |
| NM_004009.3:c.8214A>G | NP_004000.1:p.Gln2738= | |
| NM_004010.3:c.7857A>G | NP_004001.1:p.Gln2619= | |
| NM_004011.3:c.4203A>G | NP_004002.2:p.Gln1401= | |
| NM_004012.3:c.4194A>G | NP_004003.1:p.Gln1398= | |
| NM_004013.2:c.846A>G | NP_004004.1:p.Gln282= | |
| NM_004014.2:c.39A>G | NP_004005.1:p.Gln13= | |
| NM_004020.3:c.846A>G | NP_004011.2:p.Gln282= | |
| NM_004021.2:c.846A>G | NP_004012.1:p.Gln282= | |
| NM_004022.2:c.846A>G | NP_004013.1:p.Gln282= | |
| NM_004023.2:c.846A>G | NP_004014.1:p.Gln282= | |
| XM_006724468.2:c.8226A>G | XP_006724531.1:p.Gln2742= | |
| XM_006724469.2:c.8202A>G | XP_006724532.1:p.Gln2734= | |
| XM_006724470.2:c.8226A>G | XP_006724533.1:p.Gln2742= | |
| XM_006724471.2:c.8226A>G | XP_006724534.1:p.Gln2742= | |
| XM_006724472.2:c.8097A>G | XP_006724535.1:p.Gln2699= | |
| XM_006724473.2:c.8088A>G | XP_006724536.1:p.Gln2696= | |
| XM_006724474.2:c.8226A>G | XP_006724537.1:p.Gln2742= | |
| XM_006724475.2:c.8226A>G | XP_006724538.1:p.Gln2742= | |
| XM_011545467.1:c.8103A>G | XP_011543769.1:p.Gln2701= | |
| XM_011545468.1:c.8226A>G | XP_011543770.1:p.Gln2742= | |
| XM_006724469.3:c.8202A>G | XP_006724532.1:p.Gln2734= | |
| XM_006724470.3:c.8226A>G | XP_006724533.1:p.Gln2742= | |
| XM_006724474.3:c.8226A>G | XP_006724537.1:p.Gln2742= | |
| XM_011545468.2:c.8226A>G | XP_011543770.1:p.Gln2742= | |
| XM_017029328.1:c.8226A>G | XP_016884817.1:p.Gln2742= | |
| XM_017029331.1:c.2400A>G | XP_016884820.1:p.Gln800= | |
| NM_000109.4:c.8202A>G | NP_000100.3:p.Gln2734= | |
| NM_004006.3:c.8226A>G MANE Select | NP_003997.2:p.Gln2742= | |
| NM_004011.4:c.4203A>G | NP_004002.3:p.Gln1401= | |
| NM_004012.4:c.4194A>G | NP_004003.2:p.Gln1398= | |
| NM_004021.3:c.846A>G | NP_004012.2:p.Gln282= | |
| NM_004023.3:c.846A>G | NP_004014.2:p.Gln282= | |
| NM_004013.3:c.846A>G | NP_004004.2:p.Gln282= | |
| NM_004014.3:c.39A>G | NP_004005.2:p.Gln13= | |
| NM_004020.4:c.846A>G | NP_004011.3:p.Gln282= | |
| NM_004022.3:c.846A>G | NP_004013.2:p.Gln282= |