Linked Data
ClinVar Variation Id:
2126632
ClinVar RCV Id:
RCV003047389
MyVariant Identifiers:
chrX:g.32361323G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32343206G>C , CM000685.2:g.32343206G>C | GRCh38 |
| NC_000023.10:g.32361323G>C , CM000685.1:g.32361323G>C | GRCh37 |
| NC_000023.9:g.32271244G>C | NCBI36 |
| NG_012232.1:g.1001404C>G , LRG_199:g.1001404C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.513C>G | ENSP00000350765.3:p.Leu171= | |
| ENST00000357033.9:c.5667C>G MANE Select | ENSP00000354923.3:p.Leu1889= | |
| ENST00000619831.5:c.1635C>G | ENSP00000479270.2:p.Leu545= | |
| ENST00000357033.8:c.5667C>G | ENSP00000354923.3:p.Leu1889= | |
| ENST00000378677.6:c.5655C>G | ENSP00000367948.2:p.Leu1885= | |
| ENST00000488902.5:n.336-126143C>G | ||
| ENST00000493412.1:c.324C>G | ENSP00000417725.1:p.Leu108= | |
| ENST00000619831.4:c.5655C>G | ENSP00000479270.1:p.Leu1885= | |
| ENST00000620040.4:c.5667C>G | ENSP00000478150.1:p.Leu1889= | |
| NM_000109.3:c.5643C>G | NP_000100.2:p.Leu1881= | |
| NM_004006.2:c.5667C>G , LRG_199t1:c.5667C>G | NP_003997.1:p.Leu1889= | |
| NM_004009.3:c.5655C>G | NP_004000.1:p.Leu1885= | |
| NM_004010.3:c.5298C>G | NP_004001.1:p.Leu1766= | |
| NM_004011.3:c.1644C>G | NP_004002.2:p.Leu548= | |
| NM_004012.3:c.1635C>G | NP_004003.1:p.Leu545= | |
| XM_006724468.2:c.5667C>G | XP_006724531.1:p.Leu1889= | |
| XM_006724469.2:c.5643C>G | XP_006724532.1:p.Leu1881= | |
| XM_006724470.2:c.5667C>G | XP_006724533.1:p.Leu1889= | |
| XM_006724471.2:c.5667C>G | XP_006724534.1:p.Leu1889= | |
| XM_006724472.2:c.5538C>G | XP_006724535.1:p.Leu1846= | |
| XM_006724473.2:c.5529C>G | XP_006724536.1:p.Leu1843= | |
| XM_006724474.2:c.5667C>G | XP_006724537.1:p.Leu1889= | |
| XM_006724475.2:c.5667C>G | XP_006724538.1:p.Leu1889= | |
| XM_011545467.1:c.5544C>G | XP_011543769.1:p.Leu1848= | |
| XM_011545468.1:c.5667C>G | XP_011543770.1:p.Leu1889= | |
| XM_011545469.1:c.5667C>G | XP_011543771.1:p.Leu1889= | |
| XM_006724469.3:c.5643C>G | XP_006724532.1:p.Leu1881= | |
| XM_006724470.3:c.5667C>G | XP_006724533.1:p.Leu1889= | |
| XM_006724474.3:c.5667C>G | XP_006724537.1:p.Leu1889= | |
| XM_011545468.2:c.5667C>G | XP_011543770.1:p.Leu1889= | |
| XM_017029328.1:c.5667C>G | XP_016884817.1:p.Leu1889= | |
| XM_017029329.1:c.5667C>G | XP_016884818.1:p.Leu1889= | |
| XM_017029330.2:c.5667C>G | XP_016884819.1:p.Leu1889= | |
| NM_000109.4:c.5643C>G | NP_000100.3:p.Leu1881= | |
| NM_004006.3:c.5667C>G MANE Select | NP_003997.2:p.Leu1889= | |
| NM_004011.4:c.1644C>G | NP_004002.3:p.Leu548= | |
| NM_004012.4:c.1635C>G | NP_004003.2:p.Leu545= |