Linked Data
ClinVar Variation Id:
1605606
ClinVar RCV Id:
RCV002149829
dbSNP Id:
rs2126792698
gnomAD v4:
5-132393731-A-G
MyVariant Identifiers:
chr5:g.131729423A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393731A>G , CM000667.2:g.132393731A>G | GRCh38 |
| NC_000005.9:g.131729423A>G , CM000667.1:g.131729423A>G | GRCh37 |
| NC_000005.8:g.131757322A>G | NCBI36 |
| NG_008982.1:g.29023A>G | |
| NG_008982.2:g.29028A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-454A>G | ENSP00000388838.2:n.1292-454A>G | |
| ENST00000435065.7:c.1578A>G | ENSP00000402760.2:p.Thr526= | |
| ENST00000448810.6:c.*358A>G | ENSP00000401860.2:n.*358A>G | |
| ENST00000685543.1:n.1647A>G | ||
| ENST00000686757.1:c.*670A>G | ENSP00000510721.1:n.*670A>G | |
| ENST00000686868.1:n.498A>G | ||
| ENST00000687740.1:n.4191A>G | ||
| ENST00000688151.1:n.2816A>G | ||
| ENST00000689271.1:c.1353A>G | ENSP00000510797.1:p.Thr451= | |
| ENST00000690900.1:c.*670A>G | ENSP00000510703.1:n.*670A>G | |
| ENST00000692212.1:n.4646A>G | ||
| ENST00000692355.1:c.759A>G | ||
| ENST00000692413.1:c.1488A>G | ENSP00000509374.1:p.Thr496= | |
| ENST00000692825.1:c.1574A>G | ENSP00000509447.1:n.1574A>G | |
| ENST00000693308.1:c.1554A>G | ENSP00000509770.1:p.Thr518= | |
| ENST00000693763.1:n.2666A>G | ||
| ENST00000245407.8:c.1506A>G MANE Select | ENSP00000245407.3:p.Thr502= | |
| ENST00000245407.7:c.1506A>G | ENSP00000245407.3:p.Thr502= | |
| ENST00000435065.6:c.1578A>G | ENSP00000402760.2:p.Thr526= | |
| ENST00000447841.5:c.350A>G | ||
| ENST00000448810.5:c.768A>G | ||
| ENST00000461013.5:n.8928A>G | ||
| ENST00000475308.1:n.2184A>G | ||
| NM_001308122.1:c.1578A>G | NP_001295051.1:p.Thr526= | |
| NM_003060.3:c.1506A>G | NP_003051.1:p.Thr502= | |
| XM_011543590.1:c.888A>G | XP_011541892.1:p.Thr296= | |
| XR_948290.1:n.1632A>G | ||
| XM_011543590.2:c.888A>G | XP_011541892.1:p.Thr296= | |
| XM_017009778.2:c.978A>G | XP_016865267.1:p.Thr326= | |
| XR_001742215.1:n.1761A>G | ||
| XR_001742216.1:n.1780A>G | ||
| XR_427718.2:n.1866A>G | ||
| XR_948290.2:n.1632A>G | ||
| XR_948291.2:n.1860A>G | ||
| NM_003060.4:c.1506A>G MANE Select | NP_003051.1:p.Thr502= | |
| NM_001308122.2:c.1578A>G | NP_001295051.1:p.Thr526= |