Linked Data
ClinVar Variation Id:
501821
dbSNP Id:
rs771509836
ExAC:
X:31747823 C / G
gnomAD v2:
X-31747823-C-G
gnomAD v4:
X-31729706-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31729706C>G , CM000685.2:g.31729706C>G | GRCh38 |
| NC_000023.10:g.31747823C>G , CM000685.1:g.31747823C>G | GRCh37 |
| NC_000023.9:g.31657744C>G | NCBI36 |
| NG_012232.1:g.1614904G>C , LRG_199:g.1614904G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2431G>C | ENSP00000350765.3:p.Glu811Gln | |
| ENST00000682238.1:c.205G>C | ENSP00000508124.1:p.Glu69Gln | |
| ENST00000683117.1:n.1246G>C | ||
| ENST00000683450.1:n.1125+44254G>C | ||
| ENST00000683851.1:n.1246G>C | ||
| ENST00000683957.1:n.1077G>C | ||
| ENST00000684130.1:c.205G>C | ENSP00000508037.1:p.Glu69Gln | |
| ENST00000357033.9:c.7585G>C MANE Select | ENSP00000354923.3:p.Glu2529Gln | |
| ENST00000619831.5:c.3553G>C | ENSP00000479270.2:p.Glu1185Gln | |
| ENST00000620040.5:c.205G>C | ENSP00000478150.2:p.Glu69Gln | |
| ENST00000680961.1:c.205G>C | ENSP00000506386.1:p.Glu69Gln | |
| ENST00000681646.1:n.1246G>C | ||
| ENST00000681839.1:c.574G>C | ENSP00000505228.1:p.Glu192Gln | |
| ENST00000357033.8:c.7585G>C | ENSP00000354923.3:p.Glu2529Gln | |
| ENST00000358062.6:c.673G>C | ENSP00000350765.2:p.Glu225Gln | |
| ENST00000359836.5:c.205G>C | ENSP00000352894.1:p.Glu69Gln | |
| ENST00000378677.6:c.7573G>C | ENSP00000367948.2:p.Glu2525Gln | |
| ENST00000378707.7:c.205G>C | ENSP00000367979.3:p.Glu69Gln | |
| ENST00000471779.1:c.342G>C | ENSP00000417075.1:n.342G>C | |
| ENST00000474231.5:c.205G>C | ENSP00000417123.1:p.Glu69Gln | |
| ENST00000541735.5:c.205G>C | ENSP00000444119.1:p.Glu69Gln | |
| ENST00000619831.4:c.7570G>C | ENSP00000479270.1:p.Glu2524Gln | |
| ENST00000620040.4:c.7582G>C | ENSP00000478150.1:p.Glu2528Gln | |
| NM_000109.3:c.7561G>C | NP_000100.2:p.Glu2521Gln | |
| NM_004006.2:c.7585G>C , LRG_199t1:c.7585G>C | NP_003997.1:p.Glu2529Gln | |
| NM_004009.3:c.7573G>C | NP_004000.1:p.Glu2525Gln | |
| NM_004010.3:c.7216G>C | NP_004001.1:p.Glu2406Gln | |
| NM_004011.3:c.3562G>C | NP_004002.2:p.Glu1188Gln | |
| NM_004012.3:c.3553G>C | NP_004003.1:p.Glu1185Gln | |
| NM_004013.2:c.205G>C | NP_004004.1:p.Glu69Gln | |
| NM_004020.3:c.205G>C | NP_004011.2:p.Glu69Gln | |
| NM_004021.2:c.205G>C | NP_004012.1:p.Glu69Gln | |
| NM_004022.2:c.205G>C | NP_004013.1:p.Glu69Gln | |
| NM_004023.2:c.205G>C | NP_004014.1:p.Glu69Gln | |
| XM_006724468.2:c.7585G>C | XP_006724531.1:p.Glu2529Gln | |
| XM_006724469.2:c.7561G>C | XP_006724532.1:p.Glu2521Gln | |
| XM_006724470.2:c.7585G>C | XP_006724533.1:p.Glu2529Gln | |
| XM_006724471.2:c.7585G>C | XP_006724534.1:p.Glu2529Gln | |
| XM_006724472.2:c.7456G>C | XP_006724535.1:p.Glu2486Gln | |
| XM_006724473.2:c.7447G>C | XP_006724536.1:p.Glu2483Gln | |
| XM_006724474.2:c.7585G>C | XP_006724537.1:p.Glu2529Gln | |
| XM_006724475.2:c.7585G>C | XP_006724538.1:p.Glu2529Gln | |
| XM_011545467.1:c.7462G>C | XP_011543769.1:p.Glu2488Gln | |
| XM_011545468.1:c.7585G>C | XP_011543770.1:p.Glu2529Gln | |
| XM_006724469.3:c.7561G>C | XP_006724532.1:p.Glu2521Gln | |
| XM_006724470.3:c.7585G>C | XP_006724533.1:p.Glu2529Gln | |
| XM_006724474.3:c.7585G>C | XP_006724537.1:p.Glu2529Gln | |
| XM_011545468.2:c.7585G>C | XP_011543770.1:p.Glu2529Gln | |
| XM_017029328.1:c.7585G>C | XP_016884817.1:p.Glu2529Gln | |
| XM_017029331.1:c.1759G>C | XP_016884820.1:p.Glu587Gln | |
| NM_000109.4:c.7561G>C | NP_000100.3:p.Glu2521Gln | |
| NM_004006.3:c.7585G>C MANE Select | NP_003997.2:p.Glu2529Gln | |
| NM_004011.4:c.3562G>C | NP_004002.3:p.Glu1188Gln | |
| NM_004012.4:c.3553G>C | NP_004003.2:p.Glu1185Gln | |
| NM_004021.3:c.205G>C | NP_004012.2:p.Glu69Gln | |
| NM_004023.3:c.205G>C | NP_004014.2:p.Glu69Gln | |
| NM_004013.3:c.205G>C | NP_004004.2:p.Glu69Gln | |
| NM_004020.4:c.205G>C | NP_004011.3:p.Glu69Gln | |
| NM_004022.3:c.205G>C | NP_004013.2:p.Glu69Gln |