Linked Data
ClinVar Variation Id:
2795754
ClinVar RCV Id:
RCV003621962
MyVariant Identifiers:
chrX:g.32305789T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32287672T>C , CM000685.2:g.32287672T>C | GRCh38 |
| NC_000023.10:g.32305789T>C , CM000685.1:g.32305789T>C | GRCh37 |
| NC_000023.9:g.32215710T>C | NCBI36 |
| NG_012232.1:g.1056938A>G , LRG_199:g.1056938A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.993A>G | ENSP00000350765.3:p.Ser331= | |
| ENST00000357033.9:c.6147A>G MANE Select | ENSP00000354923.3:p.Ser2049= | |
| ENST00000619831.5:c.2115A>G | ENSP00000479270.2:p.Ser705= | |
| ENST00000357033.8:c.6147A>G | ENSP00000354923.3:p.Ser2049= | |
| ENST00000378677.6:c.6135A>G | ENSP00000367948.2:p.Ser2045= | |
| ENST00000488902.5:n.336-70609A>G | ||
| ENST00000619831.4:c.6135A>G | ENSP00000479270.1:p.Ser2045= | |
| ENST00000620040.4:c.6147A>G | ENSP00000478150.1:p.Ser2049= | |
| NM_000109.3:c.6123A>G | NP_000100.2:p.Ser2041= | |
| NM_004006.2:c.6147A>G , LRG_199t1:c.6147A>G | NP_003997.1:p.Ser2049= | |
| NM_004009.3:c.6135A>G | NP_004000.1:p.Ser2045= | |
| NM_004010.3:c.5778A>G | NP_004001.1:p.Ser1926= | |
| NM_004011.3:c.2124A>G | NP_004002.2:p.Ser708= | |
| NM_004012.3:c.2115A>G | NP_004003.1:p.Ser705= | |
| XM_006724468.2:c.6147A>G | XP_006724531.1:p.Ser2049= | |
| XM_006724469.2:c.6123A>G | XP_006724532.1:p.Ser2041= | |
| XM_006724470.2:c.6147A>G | XP_006724533.1:p.Ser2049= | |
| XM_006724471.2:c.6147A>G | XP_006724534.1:p.Ser2049= | |
| XM_006724472.2:c.6018A>G | XP_006724535.1:p.Ser2006= | |
| XM_006724473.2:c.6009A>G | XP_006724536.1:p.Ser2003= | |
| XM_006724474.2:c.6147A>G | XP_006724537.1:p.Ser2049= | |
| XM_006724475.2:c.6147A>G | XP_006724538.1:p.Ser2049= | |
| XM_011545467.1:c.6024A>G | XP_011543769.1:p.Ser2008= | |
| XM_011545468.1:c.6147A>G | XP_011543770.1:p.Ser2049= | |
| XM_006724469.3:c.6123A>G | XP_006724532.1:p.Ser2041= | |
| XM_006724470.3:c.6147A>G | XP_006724533.1:p.Ser2049= | |
| XM_006724474.3:c.6147A>G | XP_006724537.1:p.Ser2049= | |
| XM_011545468.2:c.6147A>G | XP_011543770.1:p.Ser2049= | |
| XM_017029328.1:c.6147A>G | XP_016884817.1:p.Ser2049= | |
| XM_017029329.1:c.6147A>G | XP_016884818.1:p.Ser2049= | |
| XM_017029330.2:c.6147A>G | XP_016884819.1:p.Ser2049= | |
| XM_017029331.1:c.321A>G | XP_016884820.1:p.Ser107= | |
| NM_000109.4:c.6123A>G | NP_000100.3:p.Ser2041= | |
| NM_004006.3:c.6147A>G MANE Select | NP_003997.2:p.Ser2049= | |
| NM_004011.4:c.2124A>G | NP_004002.3:p.Ser708= | |
| NM_004012.4:c.2115A>G | NP_004003.2:p.Ser705= |