Linked Data
ClinVar Variation Id:
5278
dbSNP Id:
rs281865082
ExAC:
10:100186986 T / TG
gnomAD v2:
10-100186986-T-TG
gnomAD v3:
10-98427229-T-TG
gnomAD v4:
10-98427229-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98427237dup , CM000672.2:g.98427237dup | GRCh38 |
| NC_000010.10:g.100186994dup , CM000672.1:g.100186994dup | GRCh37 |
| NC_000010.9:g.100176984dup | NCBI36 |
| NG_009646.1:g.24718dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699112.1:c.612dup | ENSP00000514137.1:p.Met205HisfsTer? | |
| ENST00000699113.1:c.*350dup | ENSP00000514138.1:n.*350dup | |
| ENST00000699114.1:n.859dup | ||
| ENST00000699115.1:c.873dup | ENSP00000514139.1:p.Met292HisfsTer? | |
| ENST00000699116.1:n.1702dup | ||
| ENST00000699117.1:n.1624dup | ||
| ENST00000699118.1:c.585dup | ENSP00000514140.1:p.Met196HisfsTer? | |
| ENST00000699119.1:c.*331dup | ENSP00000514141.1:n.*331dup | |
| ENST00000699120.1:c.*430dup | ENSP00000514142.1:n.*430dup | |
| ENST00000699121.1:c.*331dup | ENSP00000514143.1:n.*331dup | |
| ENST00000699122.1:c.399dup | ENSP00000514144.1:p.Met134HisfsTer? | |
| ENST00000699123.1:c.*740dup | ENSP00000514145.1:n.*740dup | |
| ENST00000699124.1:n.1062dup | ||
| ENST00000699125.1:c.1002dup | ENSP00000514146.1:p.Met335HisfsTer? | |
| ENST00000699126.1:n.1215dup | ||
| ENST00000699127.1:n.1215dup | ||
| ENST00000699128.1:c.*111dup | ENSP00000514147.1:n.*111dup | |
| ENST00000699129.1:c.*111dup | ENSP00000514148.1:n.*111dup | |
| ENST00000699130.1:n.1116dup | ||
| ENST00000699131.1:c.972dup | ENSP00000514149.1:p.Met325HisfsTer? | |
| ENST00000699132.1:n.3267dup | ||
| ENST00000699133.1:c.873dup | ENSP00000514150.1:p.Met292HisfsTer? | |
| ENST00000699134.1:c.1230dup | ENSP00000514151.1:p.Met411HisfsTer? | |
| ENST00000699135.1:c.*350dup | ENSP00000514152.1:n.*350dup | |
| ENST00000699136.1:c.873dup | ENSP00000514153.1:p.Met292HisfsTer? | |
| ENST00000699137.1:c.585dup | ENSP00000514154.1:p.Met196HisfsTer? | |
| ENST00000699138.1:c.*430dup | ENSP00000514155.1:n.*430dup | |
| ENST00000699139.1:c.711dup | ENSP00000514156.1:p.Met238HisfsTer? | |
| ENST00000699140.1:c.873dup | ENSP00000514157.1:p.Met292HisfsTer? | |
| ENST00000699141.1:c.*430dup | ENSP00000514158.1:n.*430dup | |
| ENST00000699142.1:c.972dup | ENSP00000514159.1:p.Met325HisfsTer? | |
| ENST00000699143.1:c.*331dup | ENSP00000514160.1:n.*331dup | |
| ENST00000699144.1:c.*430dup | ENSP00000514161.1:n.*430dup | |
| ENST00000699145.1:c.972dup | ENSP00000514162.1:p.Met325HisfsTer? | |
| ENST00000699146.1:c.972dup | ENSP00000514164.1:p.Met325HisfsTer? | |
| ENST00000699147.1:c.*430dup | ENSP00000514165.1:n.*430dup | |
| ENST00000699149.1:n.1215dup | ||
| ENST00000699159.1:c.*331dup | ENSP00000514167.1:n.*331dup | |
| ENST00000361490.9:c.972dup MANE Select | ENSP00000355310.4:p.Met325HisfsTer? | |
| ENST00000325103.10:c.972dup | ENSP00000326649.6:p.Met325HisfsTer? | |
| ENST00000359632.7:c.357dup | ENSP00000352652.3:p.Met120HisfsTer? | |
| ENST00000361490.8:c.972dup | ENSP00000355310.4:p.Met325HisfsTer? | |
| ENST00000467246.5:n.1111dup | ||
| ENST00000470095.5:n.357dup | ||
| ENST00000478087.5:n.518dup | ||
| ENST00000498219.5:n.750dup | ||
| ENST00000613394.4:c.972dup | ENSP00000477926.1:p.Met325HisfsTer? | |
| NM_000195.3:c.972dup | NP_000186.2:p.Met325HisfsTer? | |
| NM_000195.4:c.972dup | NP_000186.2:p.Met325HisfsTer? | |
| NM_001311345.1:c.-1dup | NP_001298274.1:p.Met1HisfsTer? | |
| XM_005269755.2:c.972dup | XP_005269812.1:p.Met325HisfsTer? | |
| XM_005269756.2:c.972dup | XP_005269813.1:p.Met325HisfsTer? | |
| XM_005269757.3:c.972dup | XP_005269814.1:p.Met325HisfsTer? | |
| XM_005269758.1:c.873dup | XP_005269815.1:p.Met292HisfsTer? | |
| XM_005269759.1:c.603dup | XP_005269816.1:p.Met202HisfsTer? | |
| XM_005269760.3:c.-1dup | XP_005269817.1:p.Met1HisfsTer? | |
| XM_005269761.1:c.-1dup | XP_005269818.1:p.Met1HisfsTer? | |
| XM_006717818.1:c.711dup | XP_006717881.1:p.Met238HisfsTer? | |
| NM_001322476.1:c.972dup | NP_001309405.1:p.Met325HisfsTer? | |
| NM_001322477.1:c.972dup | NP_001309406.1:p.Met325HisfsTer? | |
| NM_001322478.1:c.873dup | NP_001309407.1:p.Met292HisfsTer? | |
| NM_001322479.1:c.873dup | NP_001309408.1:p.Met292HisfsTer? | |
| NM_001322480.1:c.711dup | NP_001309409.1:p.Met238HisfsTer? | |
| NM_001322481.1:c.711dup | NP_001309410.1:p.Met238HisfsTer? | |
| NM_001322482.1:c.612dup | NP_001309411.1:p.Met205HisfsTer? | |
| NM_001322483.1:c.603dup | NP_001309412.1:p.Met202HisfsTer? | |
| NM_001322484.1:c.603dup | NP_001309413.1:p.Met202HisfsTer? | |
| NM_001322485.1:c.504dup | NP_001309414.1:p.Met169HisfsTer? | |
| NM_001322487.1:c.-1dup | NP_001309416.1:p.Met1HisfsTer? | |
| NM_001322489.1:c.-1dup | NP_001309418.1:p.Met1HisfsTer? | |
| XM_005269757.4:c.972dup | XP_005269814.1:p.Met325HisfsTer? | |
| XM_017016170.1:c.612dup | XP_016871659.1:p.Met205HisfsTer? | |
| XM_017016171.2:c.504dup | XP_016871660.1:p.Met169HisfsTer? | |
| XM_017016172.2:c.-1dup | XP_016871661.1:p.Met1HisfsTer? | |
| XM_024447971.1:c.1002dup | XP_024303739.1:p.Met335HisfsTer? | |
| XM_024447972.1:c.-1dup | XP_024303740.1:p.Met1HisfsTer? | |
| XR_001747098.1:n.1241dup | ||
| XR_001747099.2:n.1241dup | ||
| XR_001747100.2:n.1241dup | ||
| XR_001747101.2:n.1142dup | ||
| NM_000195.5:c.972dup MANE Select | NP_000186.2:p.Met325HisfsTer? | |
| NM_001311345.2:c.-1dup | NP_001298274.1:p.Met1HisfsTer? | |
| NM_001322476.2:c.972dup | NP_001309405.1:p.Met325HisfsTer? | |
| NM_001322477.2:c.972dup | NP_001309406.1:p.Met325HisfsTer? | |
| NM_001322478.2:c.873dup | NP_001309407.1:p.Met292HisfsTer? | |
| NM_001322479.2:c.873dup | NP_001309408.1:p.Met292HisfsTer? | |
| NM_001322480.2:c.711dup | NP_001309409.1:p.Met238HisfsTer? | |
| NM_001322481.2:c.711dup | NP_001309410.1:p.Met238HisfsTer? | |
| NM_001322482.2:c.612dup | NP_001309411.1:p.Met205HisfsTer? | |
| NM_001322483.2:c.603dup | NP_001309412.1:p.Met202HisfsTer? | |
| NM_001322484.2:c.603dup | NP_001309413.1:p.Met202HisfsTer? | |
| NM_001322485.2:c.504dup | NP_001309414.1:p.Met169HisfsTer? | |
| NM_001322487.2:c.-1dup | NP_001309416.1:p.Met1HisfsTer? | |
| NM_001322489.2:c.-1dup | NP_001309418.1:p.Met1HisfsTer? |