Linked Data
ClinVar Variation Id:
926881
ClinVar RCV Id:
RCV001189786
dbSNP Id:
rs1766408359
MyVariant Identifiers:
chr5:g.112178491A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842794A>T , CM000667.2:g.112842794A>T | GRCh38 |
| NC_000005.9:g.112178491A>T , CM000667.1:g.112178491A>T | GRCh37 |
| NC_000005.8:g.112206390A>T | NCBI36 |
| NG_008481.4:g.155274A>T , LRG_130:g.155274A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7254A>T | ENSP00000473355.2:p.Gly2418= | |
| ENST00000505350.2:c.*7206A>T | ENSP00000481752.1:n.*7206A>T | |
| ENST00000507379.6:c.7146A>T | ENSP00000423224.2:p.Gly2382= | |
| ENST00000509732.6:c.7200A>T | ENSP00000426541.2:p.Gly2400= | |
| ENST00000512211.7:c.7200A>T | ENSP00000423828.3:p.Gly2400= | |
| ENST00000257430.9:c.7200A>T MANE Select | ENSP00000257430.4:p.Gly2400= | |
| ENST00000257430.8:c.7200A>T | ENSP00000257430.4:p.Gly2400= | |
| ENST00000508376.6:c.7200A>T | ENSP00000427089.2:p.Gly2400= | |
| ENST00000520401.1:c.230+13822A>T | ||
| NM_000038.5:c.7200A>T | NP_000029.2:p.Gly2400= | |
| NM_001127510.2:c.7200A>T | NP_001120982.1:p.Gly2400= | |
| NM_001127511.2:c.7146A>T | NP_001120983.2:p.Gly2382= | |
| NM_001354895.1:c.7200A>T | NP_001341824.1:p.Gly2400= | |
| NM_001354896.1:c.7254A>T | NP_001341825.1:p.Gly2418= | |
| NM_001354897.1:c.7230A>T | NP_001341826.1:p.Gly2410= | |
| NM_001354898.1:c.7125A>T | NP_001341827.1:p.Gly2375= | |
| NM_001354899.1:c.7116A>T | NP_001341828.1:p.Gly2372= | |
| NM_001354900.1:c.7077A>T | NP_001341829.1:p.Gly2359= | |
| NM_001354901.1:c.7023A>T | NP_001341830.1:p.Gly2341= | |
| NM_001354902.1:c.6927A>T | NP_001341831.1:p.Gly2309= | |
| NM_001354903.1:c.6897A>T | NP_001341832.1:p.Gly2299= | |
| NM_001354904.1:c.6822A>T | NP_001341833.1:p.Gly2274= | |
| NM_001354905.1:c.6720A>T | NP_001341834.1:p.Gly2240= | |
| NM_001354906.1:c.6351A>T | NP_001341835.1:p.Gly2117= | |
| NM_000038.6:c.7200A>T MANE Select | NP_000029.2:p.Gly2400= | |
| NM_001127510.3:c.7200A>T | NP_001120982.1:p.Gly2400= | |
| NM_001127511.3:c.7146A>T | NP_001120983.2:p.Gly2382= | |
| NM_001354895.2:c.7200A>T | NP_001341824.1:p.Gly2400= | |
| NM_001354896.2:c.7254A>T | NP_001341825.1:p.Gly2418= | |
| NM_001354897.2:c.7230A>T | NP_001341826.1:p.Gly2410= | |
| NM_001354898.2:c.7125A>T | NP_001341827.1:p.Gly2375= | |
| NM_001354899.2:c.7116A>T | NP_001341828.1:p.Gly2372= | |
| NM_001354900.2:c.7077A>T | NP_001341829.1:p.Gly2359= | |
| NM_001354901.2:c.7023A>T | NP_001341830.1:p.Gly2341= | |
| NM_001354902.2:c.6927A>T | NP_001341831.1:p.Gly2309= | |
| NM_001354903.2:c.6897A>T | NP_001341832.1:p.Gly2299= | |
| NM_001354904.2:c.6822A>T | NP_001341833.1:p.Gly2274= | |
| NM_001354905.2:c.6720A>T | NP_001341834.1:p.Gly2240= | |
| NM_001354906.2:c.6351A>T | NP_001341835.1:p.Gly2117= |