Linked Data
ClinVar Variation Id:
518815
ClinVar RCV Id:
RCV000620588
RCV001356225
RCV000701669
RCV001002643
RCV001829737
RCV001256881
RCV002483706
dbSNP Id:
rs748937055
ExAC:
X:31645954 C / T
gnomAD v2:
X-31645954-C-T
gnomAD v3:
X-31627837-C-T
gnomAD v4:
X-31627837-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31627837C>T , CM000685.2:g.31627837C>T | GRCh38 |
| NC_000023.10:g.31645954C>T , CM000685.1:g.31645954C>T | GRCh37 |
| NC_000023.9:g.31555875C>T | NCBI36 |
| NG_012232.1:g.1716773G>A , LRG_199:g.1716773G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2899G>A | ENSP00000350765.3:p.Glu967Lys | |
| ENST00000682238.1:c.673G>A | ENSP00000508124.1:p.Glu225Lys | |
| ENST00000683450.1:n.1518G>A | ||
| ENST00000683851.1:n.1714G>A | ||
| ENST00000683957.1:n.1545G>A | ||
| ENST00000684130.1:c.673G>A | ENSP00000508037.1:p.Glu225Lys | |
| ENST00000357033.9:c.8053G>A MANE Select | ENSP00000354923.3:p.Glu2685Lys | |
| ENST00000619831.5:c.4021G>A | ENSP00000479270.2:p.Glu1341Lys | |
| ENST00000620040.5:c.673G>A | ENSP00000478150.2:p.Glu225Lys | |
| ENST00000680961.1:c.673G>A | ENSP00000506386.1:p.Glu225Lys | |
| ENST00000681646.1:n.1714G>A | ||
| ENST00000357033.8:c.8053G>A | ENSP00000354923.3:p.Glu2685Lys | |
| ENST00000358062.6:c.1141G>A | ENSP00000350765.2:p.Glu381Lys | |
| ENST00000359836.5:c.673G>A | ENSP00000352894.1:p.Glu225Lys | |
| ENST00000378677.6:c.8041G>A | ENSP00000367948.2:p.Glu2681Lys | |
| ENST00000378707.7:c.673G>A | ENSP00000367979.3:p.Glu225Lys | |
| ENST00000474231.5:c.673G>A | ENSP00000417123.1:p.Glu225Lys | |
| ENST00000541735.5:c.673G>A | ENSP00000444119.1:p.Glu225Lys | |
| ENST00000619831.4:c.8038G>A | ENSP00000479270.1:p.Glu2680Lys | |
| ENST00000620040.4:c.8050G>A | ENSP00000478150.1:p.Glu2684Lys | |
| NM_000109.3:c.8029G>A | NP_000100.2:p.Glu2677Lys | |
| NM_004006.2:c.8053G>A , LRG_199t1:c.8053G>A | NP_003997.1:p.Glu2685Lys | |
| NM_004009.3:c.8041G>A | NP_004000.1:p.Glu2681Lys | |
| NM_004010.3:c.7684G>A | NP_004001.1:p.Glu2562Lys | |
| NM_004011.3:c.4030G>A | NP_004002.2:p.Glu1344Lys | |
| NM_004012.3:c.4021G>A | NP_004003.1:p.Glu1341Lys | |
| NM_004013.2:c.673G>A | NP_004004.1:p.Glu225Lys | |
| NM_004020.3:c.673G>A | NP_004011.2:p.Glu225Lys | |
| NM_004021.2:c.673G>A | NP_004012.1:p.Glu225Lys | |
| NM_004022.2:c.673G>A | NP_004013.1:p.Glu225Lys | |
| NM_004023.2:c.673G>A | NP_004014.1:p.Glu225Lys | |
| XM_006724468.2:c.8053G>A | XP_006724531.1:p.Glu2685Lys | |
| XM_006724469.2:c.8029G>A | XP_006724532.1:p.Glu2677Lys | |
| XM_006724470.2:c.8053G>A | XP_006724533.1:p.Glu2685Lys | |
| XM_006724471.2:c.8053G>A | XP_006724534.1:p.Glu2685Lys | |
| XM_006724472.2:c.7924G>A | XP_006724535.1:p.Glu2642Lys | |
| XM_006724473.2:c.7915G>A | XP_006724536.1:p.Glu2639Lys | |
| XM_006724474.2:c.8053G>A | XP_006724537.1:p.Glu2685Lys | |
| XM_006724475.2:c.8053G>A | XP_006724538.1:p.Glu2685Lys | |
| XM_011545467.1:c.7930G>A | XP_011543769.1:p.Glu2644Lys | |
| XM_011545468.1:c.8053G>A | XP_011543770.1:p.Glu2685Lys | |
| XM_006724469.3:c.8029G>A | XP_006724532.1:p.Glu2677Lys | |
| XM_006724470.3:c.8053G>A | XP_006724533.1:p.Glu2685Lys | |
| XM_006724474.3:c.8053G>A | XP_006724537.1:p.Glu2685Lys | |
| XM_011545468.2:c.8053G>A | XP_011543770.1:p.Glu2685Lys | |
| XM_017029328.1:c.8053G>A | XP_016884817.1:p.Glu2685Lys | |
| XM_017029331.1:c.2227G>A | XP_016884820.1:p.Glu743Lys | |
| NM_000109.4:c.8029G>A | NP_000100.3:p.Glu2677Lys | |
| NM_004006.3:c.8053G>A MANE Select | NP_003997.2:p.Glu2685Lys | |
| NM_004011.4:c.4030G>A | NP_004002.3:p.Glu1344Lys | |
| NM_004012.4:c.4021G>A | NP_004003.2:p.Glu1341Lys | |
| NM_004021.3:c.673G>A | NP_004012.2:p.Glu225Lys | |
| NM_004023.3:c.673G>A | NP_004014.2:p.Glu225Lys | |
| NM_004013.3:c.673G>A | NP_004004.2:p.Glu225Lys | |
| NM_004020.4:c.673G>A | NP_004011.3:p.Glu225Lys | |
| NM_004022.3:c.673G>A | NP_004013.2:p.Glu225Lys |