Linked Data
ClinVar Variation Id:
2822517
ClinVar RCV Id:
RCV003616407
dbSNP Id:
rs1709760000
MyVariant Identifiers:
chr5:g.131729498C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393806C>G , CM000667.2:g.132393806C>G | GRCh38 |
| NC_000005.9:g.131729498C>G , CM000667.1:g.131729498C>G | GRCh37 |
| NC_000005.8:g.131757397C>G | NCBI36 |
| NG_008982.1:g.29098C>G | |
| NG_008982.2:g.29103C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-379C>G | ENSP00000388838.2:n.1292-379C>G | |
| ENST00000435065.7:c.1653C>G | ENSP00000402760.2:p.Val551= | |
| ENST00000448810.6:c.*433C>G | ENSP00000401860.2:n.*433C>G | |
| ENST00000685543.1:n.1722C>G | ||
| ENST00000686757.1:c.*745C>G | ENSP00000510721.1:n.*745C>G | |
| ENST00000686868.1:n.573C>G | ||
| ENST00000687740.1:n.4266C>G | ||
| ENST00000688151.1:n.2891C>G | ||
| ENST00000689271.1:c.1428C>G | ENSP00000510797.1:p.Val476= | |
| ENST00000690900.1:c.*745C>G | ENSP00000510703.1:n.*745C>G | |
| ENST00000692212.1:n.4721C>G | ||
| ENST00000692355.1:c.834C>G | ||
| ENST00000692413.1:c.1563C>G | ENSP00000509374.1:p.Val521= | |
| ENST00000692825.1:c.1649C>G | ENSP00000509447.1:n.1649C>G | |
| ENST00000693308.1:c.1629C>G | ENSP00000509770.1:p.Val543= | |
| ENST00000693763.1:n.2741C>G | ||
| ENST00000245407.8:c.1581C>G MANE Select | ENSP00000245407.3:p.Val527= | |
| ENST00000245407.7:c.1581C>G | ENSP00000245407.3:p.Val527= | |
| ENST00000435065.6:c.1653C>G | ENSP00000402760.2:p.Val551= | |
| ENST00000447841.5:c.425C>G | ||
| ENST00000448810.5:c.843C>G | ||
| ENST00000461013.5:n.9003C>G | ||
| ENST00000475308.1:n.2259C>G | ||
| NM_001308122.1:c.1653C>G | NP_001295051.1:p.Val551= | |
| NM_003060.3:c.1581C>G | NP_003051.1:p.Val527= | |
| XM_011543590.1:c.963C>G | XP_011541892.1:p.Val321= | |
| XR_948290.1:n.1707C>G | ||
| XM_011543590.2:c.963C>G | XP_011541892.1:p.Val321= | |
| XM_017009778.2:c.1053C>G | XP_016865267.1:p.Val351= | |
| XR_001742215.1:n.1836C>G | ||
| XR_001742216.1:n.1855C>G | ||
| XR_427718.2:n.1941C>G | ||
| XR_948290.2:n.1707C>G | ||
| XR_948291.2:n.1935C>G | ||
| NM_003060.4:c.1581C>G MANE Select | NP_003051.1:p.Val527= | |
| NM_001308122.2:c.1653C>G | NP_001295051.1:p.Val551= |