Linked Data
ClinVar Variation Id:
1615860
ClinVar RCV Id:
RCV002081769
dbSNP Id:
rs863225011
MyVariant Identifiers:
chrX:g.31645969G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31627852G>T , CM000685.2:g.31627852G>T | GRCh38 |
| NC_000023.10:g.31645969G>T , CM000685.1:g.31645969G>T | GRCh37 |
| NC_000023.9:g.31555890G>T | NCBI36 |
| NG_012232.1:g.1716758C>A , LRG_199:g.1716758C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2884C>A | ENSP00000350765.3:p.Arg962= | |
| ENST00000682238.1:c.658C>A | ENSP00000508124.1:p.Arg220= | |
| ENST00000683450.1:n.1503C>A | ||
| ENST00000683851.1:n.1699C>A | ||
| ENST00000683957.1:n.1530C>A | ||
| ENST00000684130.1:c.658C>A | ENSP00000508037.1:p.Arg220= | |
| ENST00000357033.9:c.8038C>A MANE Select | ENSP00000354923.3:p.Arg2680= | |
| ENST00000619831.5:c.4006C>A | ENSP00000479270.2:p.Arg1336= | |
| ENST00000620040.5:c.658C>A | ENSP00000478150.2:p.Arg220= | |
| ENST00000680961.1:c.658C>A | ENSP00000506386.1:p.Arg220= | |
| ENST00000681646.1:n.1699C>A | ||
| ENST00000357033.8:c.8038C>A | ENSP00000354923.3:p.Arg2680= | |
| ENST00000358062.6:c.1126C>A | ENSP00000350765.2:p.Arg376= | |
| ENST00000359836.5:c.658C>A | ENSP00000352894.1:p.Arg220= | |
| ENST00000378677.6:c.8026C>A | ENSP00000367948.2:p.Arg2676= | |
| ENST00000378707.7:c.658C>A | ENSP00000367979.3:p.Arg220= | |
| ENST00000474231.5:c.658C>A | ENSP00000417123.1:p.Arg220= | |
| ENST00000541735.5:c.658C>A | ENSP00000444119.1:p.Arg220= | |
| ENST00000619831.4:c.8023C>A | ENSP00000479270.1:p.Arg2675= | |
| ENST00000620040.4:c.8035C>A | ENSP00000478150.1:p.Arg2679= | |
| NM_000109.3:c.8014C>A | NP_000100.2:p.Arg2672= | |
| NM_004006.2:c.8038C>A , LRG_199t1:c.8038C>A | NP_003997.1:p.Arg2680= | |
| NM_004009.3:c.8026C>A | NP_004000.1:p.Arg2676= | |
| NM_004010.3:c.7669C>A | NP_004001.1:p.Arg2557= | |
| NM_004011.3:c.4015C>A | NP_004002.2:p.Arg1339= | |
| NM_004012.3:c.4006C>A | NP_004003.1:p.Arg1336= | |
| NM_004013.2:c.658C>A | NP_004004.1:p.Arg220= | |
| NM_004020.3:c.658C>A | NP_004011.2:p.Arg220= | |
| NM_004021.2:c.658C>A | NP_004012.1:p.Arg220= | |
| NM_004022.2:c.658C>A | NP_004013.1:p.Arg220= | |
| NM_004023.2:c.658C>A | NP_004014.1:p.Arg220= | |
| XM_006724468.2:c.8038C>A | XP_006724531.1:p.Arg2680= | |
| XM_006724469.2:c.8014C>A | XP_006724532.1:p.Arg2672= | |
| XM_006724470.2:c.8038C>A | XP_006724533.1:p.Arg2680= | |
| XM_006724471.2:c.8038C>A | XP_006724534.1:p.Arg2680= | |
| XM_006724472.2:c.7909C>A | XP_006724535.1:p.Arg2637= | |
| XM_006724473.2:c.7900C>A | XP_006724536.1:p.Arg2634= | |
| XM_006724474.2:c.8038C>A | XP_006724537.1:p.Arg2680= | |
| XM_006724475.2:c.8038C>A | XP_006724538.1:p.Arg2680= | |
| XM_011545467.1:c.7915C>A | XP_011543769.1:p.Arg2639= | |
| XM_011545468.1:c.8038C>A | XP_011543770.1:p.Arg2680= | |
| XM_006724469.3:c.8014C>A | XP_006724532.1:p.Arg2672= | |
| XM_006724470.3:c.8038C>A | XP_006724533.1:p.Arg2680= | |
| XM_006724474.3:c.8038C>A | XP_006724537.1:p.Arg2680= | |
| XM_011545468.2:c.8038C>A | XP_011543770.1:p.Arg2680= | |
| XM_017029328.1:c.8038C>A | XP_016884817.1:p.Arg2680= | |
| XM_017029331.1:c.2212C>A | XP_016884820.1:p.Arg738= | |
| NM_000109.4:c.8014C>A | NP_000100.3:p.Arg2672= | |
| NM_004006.3:c.8038C>A MANE Select | NP_003997.2:p.Arg2680= | |
| NM_004011.4:c.4015C>A | NP_004002.3:p.Arg1339= | |
| NM_004012.4:c.4006C>A | NP_004003.2:p.Arg1336= | |
| NM_004021.3:c.658C>A | NP_004012.2:p.Arg220= | |
| NM_004023.3:c.658C>A | NP_004014.2:p.Arg220= | |
| NM_004013.3:c.658C>A | NP_004004.2:p.Arg220= | |
| NM_004020.4:c.658C>A | NP_004011.3:p.Arg220= | |
| NM_004022.3:c.658C>A | NP_004013.2:p.Arg220= |