Linked Data
ClinVar Variation Id:
1552270
ClinVar RCV Id:
RCV003773659
dbSNP Id:
rs2149996772
MyVariant Identifiers:
chr5:g.112179238T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843541T>G , CM000667.2:g.112843541T>G | GRCh38 |
| NC_000005.9:g.112179238T>G , CM000667.1:g.112179238T>G | GRCh37 |
| NC_000005.8:g.112207137T>G | NCBI36 |
| NG_008481.4:g.156021T>G , LRG_130:g.156021T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8001T>G | ENSP00000473355.2:p.Pro2667= | |
| ENST00000505350.2:c.*7953T>G | ENSP00000481752.1:n.*7953T>G | |
| ENST00000507379.6:c.7893T>G | ENSP00000423224.2:p.Pro2631= | |
| ENST00000509732.6:c.7947T>G | ENSP00000426541.2:p.Pro2649= | |
| ENST00000512211.7:c.7947T>G | ENSP00000423828.3:p.Pro2649= | |
| ENST00000257430.9:c.7947T>G MANE Select | ENSP00000257430.4:p.Pro2649= | |
| ENST00000257430.8:c.7947T>G | ENSP00000257430.4:p.Pro2649= | |
| ENST00000508376.6:c.7947T>G | ENSP00000427089.2:p.Pro2649= | |
| ENST00000520401.1:c.231-13108T>G | ||
| NM_000038.5:c.7947T>G | NP_000029.2:p.Pro2649= | |
| NM_001127510.2:c.7947T>G | NP_001120982.1:p.Pro2649= | |
| NM_001127511.2:c.7893T>G | NP_001120983.2:p.Pro2631= | |
| NM_001354895.1:c.7947T>G | NP_001341824.1:p.Pro2649= | |
| NM_001354896.1:c.8001T>G | NP_001341825.1:p.Pro2667= | |
| NM_001354897.1:c.7977T>G | NP_001341826.1:p.Pro2659= | |
| NM_001354898.1:c.7872T>G | NP_001341827.1:p.Pro2624= | |
| NM_001354899.1:c.7863T>G | NP_001341828.1:p.Pro2621= | |
| NM_001354900.1:c.7824T>G | NP_001341829.1:p.Pro2608= | |
| NM_001354901.1:c.7770T>G | NP_001341830.1:p.Pro2590= | |
| NM_001354902.1:c.7674T>G | NP_001341831.1:p.Pro2558= | |
| NM_001354903.1:c.7644T>G | NP_001341832.1:p.Pro2548= | |
| NM_001354904.1:c.7569T>G | NP_001341833.1:p.Pro2523= | |
| NM_001354905.1:c.7467T>G | NP_001341834.1:p.Pro2489= | |
| NM_001354906.1:c.7098T>G | NP_001341835.1:p.Pro2366= | |
| NM_000038.6:c.7947T>G MANE Select | NP_000029.2:p.Pro2649= | |
| NM_001127510.3:c.7947T>G | NP_001120982.1:p.Pro2649= | |
| NM_001127511.3:c.7893T>G | NP_001120983.2:p.Pro2631= | |
| NM_001354895.2:c.7947T>G | NP_001341824.1:p.Pro2649= | |
| NM_001354896.2:c.8001T>G | NP_001341825.1:p.Pro2667= | |
| NM_001354897.2:c.7977T>G | NP_001341826.1:p.Pro2659= | |
| NM_001354898.2:c.7872T>G | NP_001341827.1:p.Pro2624= | |
| NM_001354899.2:c.7863T>G | NP_001341828.1:p.Pro2621= | |
| NM_001354900.2:c.7824T>G | NP_001341829.1:p.Pro2608= | |
| NM_001354901.2:c.7770T>G | NP_001341830.1:p.Pro2590= | |
| NM_001354902.2:c.7674T>G | NP_001341831.1:p.Pro2558= | |
| NM_001354903.2:c.7644T>G | NP_001341832.1:p.Pro2548= | |
| NM_001354904.2:c.7569T>G | NP_001341833.1:p.Pro2523= | |
| NM_001354905.2:c.7467T>G | NP_001341834.1:p.Pro2489= | |
| NM_001354906.2:c.7098T>G | NP_001341835.1:p.Pro2366= |