Linked Data
ClinVar Variation Id:
222548
dbSNP Id:
rs760516307
ExAC:
X:31496309 G / A
gnomAD v2:
X-31496309-G-A
gnomAD v3:
X-31478192-G-A
gnomAD v4:
X-31478192-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31478192G>A , CM000685.2:g.31478192G>A | GRCh38 |
| NC_000023.10:g.31496309G>A , CM000685.1:g.31496309G>A | GRCh37 |
| NC_000023.9:g.31406230G>A | NCBI36 |
| NG_012232.1:g.1866418C>T , LRG_199:g.1866418C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.3697C>T | ENSP00000350765.3:p.Arg1233Cys | |
| ENST00000682238.1:c.1471C>T | ENSP00000508124.1:p.Arg491Cys | |
| ENST00000683450.1:n.2316C>T | ||
| ENST00000683957.1:n.2343C>T | ||
| ENST00000684130.1:c.1471C>T | ENSP00000508037.1:p.Arg491Cys | |
| ENST00000343523.7:c.706C>T | ENSP00000340057.4:p.Arg236Cys | |
| ENST00000357033.9:c.8851C>T MANE Select | ENSP00000354923.3:p.Arg2951Cys | |
| ENST00000619831.5:c.4819C>T | ENSP00000479270.2:p.Arg1607Cys | |
| ENST00000620040.5:c.1471C>T | ENSP00000478150.2:p.Arg491Cys | |
| ENST00000680961.1:c.1471C>T | ENSP00000506386.1:p.Arg491Cys | |
| ENST00000681646.1:n.2512C>T | ||
| ENST00000343523.6:c.664C>T | ENSP00000340057.3:p.Arg222Cys | |
| ENST00000357033.8:c.8851C>T | ENSP00000354923.3:p.Arg2951Cys | |
| ENST00000358062.6:c.1939C>T | ENSP00000350765.2:p.Arg647Cys | |
| ENST00000359836.5:c.1471C>T | ENSP00000352894.1:p.Arg491Cys | |
| ENST00000378677.6:c.8839C>T | ENSP00000367948.2:p.Arg2947Cys | |
| ENST00000378707.7:c.1471C>T | ENSP00000367979.3:p.Arg491Cys | |
| ENST00000474231.5:c.1471C>T | ENSP00000417123.1:p.Arg491Cys | |
| ENST00000541735.5:c.1471C>T | ENSP00000444119.1:p.Arg491Cys | |
| ENST00000619831.4:c.8836C>T | ENSP00000479270.1:p.Arg2946Cys | |
| ENST00000620040.4:c.8848C>T | ENSP00000478150.1:p.Arg2950Cys | |
| NM_000109.3:c.8827C>T | NP_000100.2:p.Arg2943Cys | |
| NM_004006.2:c.8851C>T , LRG_199t1:c.8851C>T | NP_003997.1:p.Arg2951Cys | |
| NM_004009.3:c.8839C>T | NP_004000.1:p.Arg2947Cys | |
| NM_004010.3:c.8482C>T | NP_004001.1:p.Arg2828Cys | |
| NM_004011.3:c.4828C>T | NP_004002.2:p.Arg1610Cys | |
| NM_004012.3:c.4819C>T | NP_004003.1:p.Arg1607Cys | |
| NM_004013.2:c.1471C>T | NP_004004.1:p.Arg491Cys | |
| NM_004014.2:c.664C>T | NP_004005.1:p.Arg222Cys | |
| NM_004020.3:c.1471C>T | NP_004011.2:p.Arg491Cys | |
| NM_004021.2:c.1471C>T | NP_004012.1:p.Arg491Cys | |
| NM_004022.2:c.1471C>T | NP_004013.1:p.Arg491Cys | |
| NM_004023.2:c.1471C>T | NP_004014.1:p.Arg491Cys | |
| XM_006724468.2:c.8851C>T | XP_006724531.1:p.Arg2951Cys | |
| XM_006724469.2:c.8827C>T | XP_006724532.1:p.Arg2943Cys | |
| XM_006724470.2:c.8851C>T | XP_006724533.1:p.Arg2951Cys | |
| XM_006724471.2:c.8851C>T | XP_006724534.1:p.Arg2951Cys | |
| XM_006724472.2:c.8722C>T | XP_006724535.1:p.Arg2908Cys | |
| XM_006724473.2:c.8713C>T | XP_006724536.1:p.Arg2905Cys | |
| XM_006724474.2:c.8851C>T | XP_006724537.1:p.Arg2951Cys | |
| XM_006724475.2:c.8851C>T | XP_006724538.1:p.Arg2951Cys | |
| XM_011545467.1:c.8728C>T | XP_011543769.1:p.Arg2910Cys | |
| XM_011545468.1:c.8851C>T | XP_011543770.1:p.Arg2951Cys | |
| XM_006724469.3:c.8827C>T | XP_006724532.1:p.Arg2943Cys | |
| XM_006724470.3:c.8851C>T | XP_006724533.1:p.Arg2951Cys | |
| XM_006724474.3:c.8851C>T | XP_006724537.1:p.Arg2951Cys | |
| XM_011545468.2:c.8851C>T | XP_011543770.1:p.Arg2951Cys | |
| XM_017029328.1:c.8851C>T | XP_016884817.1:p.Arg2951Cys | |
| XM_017029331.1:c.3025C>T | XP_016884820.1:p.Arg1009Cys | |
| NM_000109.4:c.8827C>T | NP_000100.3:p.Arg2943Cys | |
| NM_004006.3:c.8851C>T MANE Select | NP_003997.2:p.Arg2951Cys | |
| NM_004011.4:c.4828C>T | NP_004002.3:p.Arg1610Cys | |
| NM_004012.4:c.4819C>T | NP_004003.2:p.Arg1607Cys | |
| NM_004021.3:c.1471C>T | NP_004012.2:p.Arg491Cys | |
| NM_004023.3:c.1471C>T | NP_004014.2:p.Arg491Cys | |
| NM_004013.3:c.1471C>T | NP_004004.2:p.Arg491Cys | |
| NM_004014.3:c.664C>T | NP_004005.2:p.Arg222Cys | |
| NM_004020.4:c.1471C>T | NP_004011.3:p.Arg491Cys | |
| NM_004022.3:c.1471C>T | NP_004013.2:p.Arg491Cys |