Linked Data
ClinVar Variation Id:
2787792
ClinVar RCV Id:
RCV003745754
MyVariant Identifiers:
chr5:g.112162863T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112827166T>C , CM000667.2:g.112827166T>C | GRCh38 |
| NC_000005.9:g.112162863T>C , CM000667.1:g.112162863T>C | GRCh37 |
| NC_000005.8:g.112190762T>C | NCBI36 |
| NG_008481.4:g.139646T>C , LRG_130:g.139646T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1408+5175T>C | ENSP00000484935.2:n.1408+5175T>C | |
| ENST00000504915.3:c.1521T>C | ENSP00000473355.2:p.Thr507= | |
| ENST00000505084.2:n.1523T>C | ||
| ENST00000505350.2:c.*1473T>C | ENSP00000481752.1:n.*1473T>C | |
| ENST00000507379.6:c.1413T>C | ENSP00000423224.2:p.Thr471= | |
| ENST00000509732.6:c.1467T>C | ENSP00000426541.2:p.Thr489= | |
| ENST00000512211.7:c.1467T>C | ENSP00000423828.3:p.Thr489= | |
| ENST00000257430.9:c.1467T>C MANE Select | ENSP00000257430.4:p.Thr489= | |
| ENST00000257430.8:c.1467T>C | ENSP00000257430.4:p.Thr489= | |
| ENST00000502371.2:c.96+5175T>C | ||
| ENST00000504915.2:c.156T>C | ENSP00000473355.1:p.Thr52= | |
| ENST00000507379.5:c.1413T>C | ENSP00000423224.1:p.Thr471= | |
| ENST00000508376.6:c.1467T>C | ENSP00000427089.2:p.Thr489= | |
| ENST00000508624.5:c.*789T>C | ENSP00000424265.1:n.*789T>C | |
| ENST00000512211.6:c.1467T>C | ENSP00000423828.2:p.Thr489= | |
| NM_000038.5:c.1467T>C | NP_000029.2:p.Thr489= | |
| NM_001127510.2:c.1467T>C | NP_001120982.1:p.Thr489= | |
| NM_001127511.2:c.1413T>C | NP_001120983.2:p.Thr471= | |
| NM_001354895.1:c.1467T>C | NP_001341824.1:p.Thr489= | |
| NM_001354896.1:c.1521T>C | NP_001341825.1:p.Thr507= | |
| NM_001354897.1:c.1497T>C | NP_001341826.1:p.Thr499= | |
| NM_001354898.1:c.1392T>C | NP_001341827.1:p.Thr464= | |
| NM_001354899.1:c.1383T>C | NP_001341828.1:p.Thr461= | |
| NM_001354900.1:c.1344T>C | NP_001341829.1:p.Thr448= | |
| NM_001354901.1:c.1290T>C | NP_001341830.1:p.Thr430= | |
| NM_001354902.1:c.1194T>C | NP_001341831.1:p.Thr398= | |
| NM_001354903.1:c.1164T>C | NP_001341832.1:p.Thr388= | |
| NM_001354904.1:c.1089T>C | NP_001341833.1:p.Thr363= | |
| NM_001354905.1:c.987T>C | NP_001341834.1:p.Thr329= | |
| NM_001354906.1:c.618T>C | NP_001341835.1:p.Thr206= | |
| NM_000038.6:c.1467T>C MANE Select | NP_000029.2:p.Thr489= | |
| NM_001127510.3:c.1467T>C | NP_001120982.1:p.Thr489= | |
| NM_001127511.3:c.1413T>C | NP_001120983.2:p.Thr471= | |
| NM_001354895.2:c.1467T>C | NP_001341824.1:p.Thr489= | |
| NM_001354896.2:c.1521T>C | NP_001341825.1:p.Thr507= | |
| NM_001354897.2:c.1497T>C | NP_001341826.1:p.Thr499= | |
| NM_001354898.2:c.1392T>C | NP_001341827.1:p.Thr464= | |
| NM_001354899.2:c.1383T>C | NP_001341828.1:p.Thr461= | |
| NM_001354900.2:c.1344T>C | NP_001341829.1:p.Thr448= | |
| NM_001354901.2:c.1290T>C | NP_001341830.1:p.Thr430= | |
| NM_001354902.2:c.1194T>C | NP_001341831.1:p.Thr398= | |
| NM_001354903.2:c.1164T>C | NP_001341832.1:p.Thr388= | |
| NM_001354904.2:c.1089T>C | NP_001341833.1:p.Thr363= | |
| NM_001354905.2:c.987T>C | NP_001341834.1:p.Thr329= | |
| NM_001354906.2:c.618T>C | NP_001341835.1:p.Thr206= |