Linked Data
ClinVar Variation Id:
166702
dbSNP Id:
rs139395045
ExAC:
X:31838158 G / A
gnomAD v2:
X-31838158-G-A
gnomAD v3:
X-31820041-G-A
gnomAD v4:
X-31820041-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31820041G>A , CM000685.2:g.31820041G>A | GRCh38 |
| NC_000023.10:g.31838158G>A , CM000685.1:g.31838158G>A | GRCh37 |
| NC_000023.9:g.31748079G>A | NCBI36 |
| NG_012232.1:g.1524569C>T , LRG_199:g.1524569C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2089C>T | ENSP00000350765.3:p.Arg697Cys | |
| ENST00000682238.1:c.-138C>T | ENSP00000508124.1:n.-138C>T | |
| ENST00000683117.1:n.904C>T | ||
| ENST00000683450.1:n.826C>T | ||
| ENST00000683851.1:n.904C>T | ||
| ENST00000683957.1:n.735C>T | ||
| ENST00000684130.1:c.-138C>T | ENSP00000508037.1:n.-138C>T | |
| ENST00000357033.9:c.7243C>T MANE Select | ENSP00000354923.3:p.Arg2415Cys | |
| ENST00000619831.5:c.3211C>T | ENSP00000479270.2:p.Arg1071Cys | |
| ENST00000620040.5:c.-138C>T | ENSP00000478150.2:n.-138C>T | |
| ENST00000680961.1:c.-138C>T | ENSP00000506386.1:n.-138C>T | |
| ENST00000681646.1:n.904C>T | ||
| ENST00000681839.1:c.232C>T | ENSP00000505228.1:p.Arg78Cys | |
| ENST00000357033.8:c.7243C>T | ENSP00000354923.3:p.Arg2415Cys | |
| ENST00000358062.6:c.331C>T | ENSP00000350765.2:p.Arg111Cys | |
| ENST00000359836.5:c.-138C>T | ENSP00000352894.1:n.-138C>T | |
| ENST00000378677.6:c.7231C>T | ENSP00000367948.2:p.Arg2411Cys | |
| ENST00000378707.7:c.-138C>T | ENSP00000367979.3:n.-138C>T | |
| ENST00000471779.1:c.66+16677C>T | ENSP00000417075.1:n.66+16677C>T | |
| ENST00000474231.5:c.-138C>T | ENSP00000417123.1:n.-138C>T | |
| ENST00000541735.5:c.-138C>T | ENSP00000444119.1:n.-138C>T | |
| ENST00000619831.4:c.7228C>T | ENSP00000479270.1:p.Arg2410Cys | |
| ENST00000620040.4:c.7240C>T | ENSP00000478150.1:p.Arg2414Cys | |
| NM_000109.3:c.7219C>T | NP_000100.2:p.Arg2407Cys | |
| NM_004006.2:c.7243C>T , LRG_199t1:c.7243C>T | NP_003997.1:p.Arg2415Cys | |
| NM_004009.3:c.7231C>T | NP_004000.1:p.Arg2411Cys | |
| NM_004010.3:c.6874C>T | NP_004001.1:p.Arg2292Cys | |
| NM_004011.3:c.3220C>T | NP_004002.2:p.Arg1074Cys | |
| NM_004012.3:c.3211C>T | NP_004003.1:p.Arg1071Cys | |
| NM_004013.2:c.-138C>T | NP_004004.1:n.-138C>T | |
| NM_004020.3:c.-138C>T | NP_004011.2:n.-138C>T | |
| NM_004021.2:c.-138C>T | NP_004012.1:n.-138C>T | |
| NM_004022.2:c.-138C>T | NP_004013.1:n.-138C>T | |
| NM_004023.2:c.-138C>T | NP_004014.1:n.-138C>T | |
| XM_006724468.2:c.7243C>T | XP_006724531.1:p.Arg2415Cys | |
| XM_006724469.2:c.7219C>T | XP_006724532.1:p.Arg2407Cys | |
| XM_006724470.2:c.7243C>T | XP_006724533.1:p.Arg2415Cys | |
| XM_006724471.2:c.7243C>T | XP_006724534.1:p.Arg2415Cys | |
| XM_006724472.2:c.7114C>T | XP_006724535.1:p.Arg2372Cys | |
| XM_006724473.2:c.7105C>T | XP_006724536.1:p.Arg2369Cys | |
| XM_006724474.2:c.7243C>T | XP_006724537.1:p.Arg2415Cys | |
| XM_006724475.2:c.7243C>T | XP_006724538.1:p.Arg2415Cys | |
| XM_011545467.1:c.7120C>T | XP_011543769.1:p.Arg2374Cys | |
| XM_011545468.1:c.7243C>T | XP_011543770.1:p.Arg2415Cys | |
| XM_006724469.3:c.7219C>T | XP_006724532.1:p.Arg2407Cys | |
| XM_006724470.3:c.7243C>T | XP_006724533.1:p.Arg2415Cys | |
| XM_006724474.3:c.7243C>T | XP_006724537.1:p.Arg2415Cys | |
| XM_011545468.2:c.7243C>T | XP_011543770.1:p.Arg2415Cys | |
| XM_017029328.1:c.7243C>T | XP_016884817.1:p.Arg2415Cys | |
| XM_017029331.1:c.1417C>T | XP_016884820.1:p.Arg473Cys | |
| NM_000109.4:c.7219C>T | NP_000100.3:p.Arg2407Cys | |
| NM_004006.3:c.7243C>T MANE Select | NP_003997.2:p.Arg2415Cys | |
| NM_004011.4:c.3220C>T | NP_004002.3:p.Arg1074Cys | |
| NM_004012.4:c.3211C>T | NP_004003.2:p.Arg1071Cys | |
| NM_004021.3:c.-138C>T | NP_004012.2:n.-138C>T | |
| NM_004023.3:c.-138C>T | NP_004014.2:n.-138C>T | |
| NM_004013.3:c.-138C>T | NP_004004.2:n.-138C>T | |
| NM_004020.4:c.-138C>T | NP_004011.3:n.-138C>T | |
| NM_004022.3:c.-138C>T | NP_004013.2:n.-138C>T |