Linked Data
ClinVar Variation Id:
519100
dbSNP Id:
rs780283825
ExAC:
X:31792260 T / C
gnomAD v2:
X-31792260-T-C
gnomAD v3:
X-31774143-T-C
gnomAD v4:
X-31774143-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31774143T>C , CM000685.2:g.31774143T>C | GRCh38 |
| NC_000023.10:g.31792260T>C , CM000685.1:g.31792260T>C | GRCh37 |
| NC_000023.9:g.31702181T>C | NCBI36 |
| NG_012232.1:g.1570467A>G , LRG_199:g.1570467A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2205A>G | ENSP00000350765.3:p.Glu735= | |
| ENST00000682238.1:c.-22A>G | ENSP00000508124.1:n.-22A>G | |
| ENST00000683117.1:n.1020A>G | ||
| ENST00000683450.1:n.942A>G | ||
| ENST00000683851.1:n.1020A>G | ||
| ENST00000683957.1:n.851A>G | ||
| ENST00000684130.1:c.-22A>G | ENSP00000508037.1:n.-22A>G | |
| ENST00000357033.9:c.7359A>G MANE Select | ENSP00000354923.3:p.Glu2453= | |
| ENST00000619831.5:c.3327A>G | ENSP00000479270.2:p.Glu1109= | |
| ENST00000620040.5:c.-22A>G | ENSP00000478150.2:n.-22A>G | |
| ENST00000680961.1:c.-22A>G | ENSP00000506386.1:n.-22A>G | |
| ENST00000681646.1:n.1020A>G | ||
| ENST00000681839.1:c.348A>G | ENSP00000505228.1:p.Glu116= | |
| ENST00000357033.8:c.7359A>G | ENSP00000354923.3:p.Glu2453= | |
| ENST00000358062.6:c.447A>G | ENSP00000350765.2:p.Glu149= | |
| ENST00000359836.5:c.-22A>G | ENSP00000352894.1:n.-22A>G | |
| ENST00000378677.6:c.7347A>G | ENSP00000367948.2:p.Glu2449= | |
| ENST00000378707.7:c.-22A>G | ENSP00000367979.3:n.-22A>G | |
| ENST00000471779.1:c.116A>G | ENSP00000417075.1:n.116A>G | |
| ENST00000474231.5:c.-22A>G | ENSP00000417123.1:n.-22A>G | |
| ENST00000541735.5:c.-22A>G | ENSP00000444119.1:n.-22A>G | |
| ENST00000619831.4:c.7344A>G | ENSP00000479270.1:p.Glu2448= | |
| ENST00000620040.4:c.7356A>G | ENSP00000478150.1:p.Glu2452= | |
| NM_000109.3:c.7335A>G | NP_000100.2:p.Glu2445= | |
| NM_004006.2:c.7359A>G , LRG_199t1:c.7359A>G | NP_003997.1:p.Glu2453= | |
| NM_004009.3:c.7347A>G | NP_004000.1:p.Glu2449= | |
| NM_004010.3:c.6990A>G | NP_004001.1:p.Glu2330= | |
| NM_004011.3:c.3336A>G | NP_004002.2:p.Glu1112= | |
| NM_004012.3:c.3327A>G | NP_004003.1:p.Glu1109= | |
| NM_004013.2:c.-22A>G | NP_004004.1:n.-22A>G | |
| NM_004020.3:c.-22A>G | NP_004011.2:n.-22A>G | |
| NM_004021.2:c.-22A>G | NP_004012.1:n.-22A>G | |
| NM_004022.2:c.-22A>G | NP_004013.1:n.-22A>G | |
| NM_004023.2:c.-22A>G | NP_004014.1:n.-22A>G | |
| XM_006724468.2:c.7359A>G | XP_006724531.1:p.Glu2453= | |
| XM_006724469.2:c.7335A>G | XP_006724532.1:p.Glu2445= | |
| XM_006724470.2:c.7359A>G | XP_006724533.1:p.Glu2453= | |
| XM_006724471.2:c.7359A>G | XP_006724534.1:p.Glu2453= | |
| XM_006724472.2:c.7230A>G | XP_006724535.1:p.Glu2410= | |
| XM_006724473.2:c.7221A>G | XP_006724536.1:p.Glu2407= | |
| XM_006724474.2:c.7359A>G | XP_006724537.1:p.Glu2453= | |
| XM_006724475.2:c.7359A>G | XP_006724538.1:p.Glu2453= | |
| XM_011545467.1:c.7236A>G | XP_011543769.1:p.Glu2412= | |
| XM_011545468.1:c.7359A>G | XP_011543770.1:p.Glu2453= | |
| XM_006724469.3:c.7335A>G | XP_006724532.1:p.Glu2445= | |
| XM_006724470.3:c.7359A>G | XP_006724533.1:p.Glu2453= | |
| XM_006724474.3:c.7359A>G | XP_006724537.1:p.Glu2453= | |
| XM_011545468.2:c.7359A>G | XP_011543770.1:p.Glu2453= | |
| XM_017029328.1:c.7359A>G | XP_016884817.1:p.Glu2453= | |
| XM_017029331.1:c.1533A>G | XP_016884820.1:p.Glu511= | |
| NM_000109.4:c.7335A>G | NP_000100.3:p.Glu2445= | |
| NM_004006.3:c.7359A>G MANE Select | NP_003997.2:p.Glu2453= | |
| NM_004011.4:c.3336A>G | NP_004002.3:p.Glu1112= | |
| NM_004012.4:c.3327A>G | NP_004003.2:p.Glu1109= | |
| NM_004021.3:c.-22A>G | NP_004012.2:n.-22A>G | |
| NM_004023.3:c.-22A>G | NP_004014.2:n.-22A>G | |
| NM_004013.3:c.-22A>G | NP_004004.2:n.-22A>G | |
| NM_004020.4:c.-22A>G | NP_004011.3:n.-22A>G | |
| NM_004022.3:c.-22A>G | NP_004013.2:n.-22A>G |