Linked Data
ClinVar Variation Id:
1542420
ClinVar RCV Id:
RCV002179721
dbSNP Id:
rs2126792684
MyVariant Identifiers:
chr5:g.131729411G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393719G>A , CM000667.2:g.132393719G>A | GRCh38 |
| NC_000005.9:g.131729411G>A , CM000667.1:g.131729411G>A | GRCh37 |
| NC_000005.8:g.131757310G>A | NCBI36 |
| NG_008982.1:g.29011G>A | |
| NG_008982.2:g.29016G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-466G>A | ENSP00000388838.2:n.1292-466G>A | |
| ENST00000435065.7:c.1566G>A | ENSP00000402760.2:p.Leu522= | |
| ENST00000448810.6:c.*346G>A | ENSP00000401860.2:n.*346G>A | |
| ENST00000685543.1:n.1635G>A | ||
| ENST00000686757.1:c.*658G>A | ENSP00000510721.1:n.*658G>A | |
| ENST00000686868.1:n.486G>A | ||
| ENST00000687740.1:n.4179G>A | ||
| ENST00000688151.1:n.2804G>A | ||
| ENST00000689271.1:c.1341G>A | ENSP00000510797.1:p.Leu447= | |
| ENST00000690900.1:c.*658G>A | ENSP00000510703.1:n.*658G>A | |
| ENST00000692212.1:n.4634G>A | ||
| ENST00000692355.1:c.747G>A | ||
| ENST00000692413.1:c.1476G>A | ENSP00000509374.1:p.Leu492= | |
| ENST00000692825.1:c.1562G>A | ENSP00000509447.1:n.1562G>A | |
| ENST00000693308.1:c.1542G>A | ENSP00000509770.1:p.Leu514= | |
| ENST00000693763.1:n.2654G>A | ||
| ENST00000245407.8:c.1494G>A MANE Select | ENSP00000245407.3:p.Leu498= | |
| ENST00000245407.7:c.1494G>A | ENSP00000245407.3:p.Leu498= | |
| ENST00000435065.6:c.1566G>A | ENSP00000402760.2:p.Leu522= | |
| ENST00000447841.5:c.338G>A | ||
| ENST00000448810.5:c.756G>A | ||
| ENST00000461013.5:n.8916G>A | ||
| ENST00000475308.1:n.2172G>A | ||
| NM_001308122.1:c.1566G>A | NP_001295051.1:p.Leu522= | |
| NM_003060.3:c.1494G>A | NP_003051.1:p.Leu498= | |
| XM_011543590.1:c.876G>A | XP_011541892.1:p.Leu292= | |
| XR_948290.1:n.1620G>A | ||
| XM_011543590.2:c.876G>A | XP_011541892.1:p.Leu292= | |
| XM_017009778.2:c.966G>A | XP_016865267.1:p.Leu322= | |
| XR_001742215.1:n.1749G>A | ||
| XR_001742216.1:n.1768G>A | ||
| XR_427718.2:n.1854G>A | ||
| XR_948290.2:n.1620G>A | ||
| XR_948291.2:n.1848G>A | ||
| NM_003060.4:c.1494G>A MANE Select | NP_003051.1:p.Leu498= | |
| NM_001308122.2:c.1566G>A | NP_001295051.1:p.Leu522= |