Linked Data
ClinVar Variation Id:
296317
ClinVar RCV Id:
RCV000325582
dbSNP Id:
rs886046153
gnomAD v3:
1-235448939-T-C
gnomAD v4:
1-235448939-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235448939T>C , CM000663.2:g.235448939T>C | GRCh38 |
| NC_000001.10:g.235612254T>C , CM000663.1:g.235612254T>C | GRCh37 |
| NC_000001.9:g.233678877T>C | NCBI36 |
| NG_009230.1:g.86527T>C | |
| NG_033219.2:g.60543A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366600.8:c.*1267A>G (B3GALNT2) MANE Select | ENSP00000355559.3:n.*1267A>G | |
| ENST00000366601.8:c.*177T>C (TBCE) | ENSP00000355560.4:n.*177T>C | |
| ENST00000406207.5:c.*177T>C (TBCE) | ENSP00000384571.1:n.*177T>C | |
| ENST00000465463.2:n.1712T>C (TBCE) | ||
| ENST00000642339.1:c.*1458T>C (TBCE) | ENSP00000495425.1:n.*1458T>C | |
| ENST00000642610.2:c.*177T>C (TBCE) MANE Select | ENSP00000494796.1:n.*177T>C | |
| ENST00000643142.1:c.*1252T>C (TBCE) | ENSP00000494755.1:n.*1252T>C | |
| ENST00000643410.1:c.*1051T>C | ENSP00000495030.1:n.*1051T>C | |
| ENST00000643487.1:n.2448T>C (TBCE) | ||
| ENST00000643524.1:c.*1346T>C (TBCE) | ENSP00000494026.1:n.*1346T>C | |
| ENST00000643994.1:c.*1761T>C (TBCE) | ENSP00000496322.1:n.*1761T>C | |
| ENST00000644037.1:c.*1971T>C (TBCE) | ENSP00000496408.1:n.*1971T>C | |
| ENST00000644055.1:c.*2386T>C | ENSP00000496307.1:n.*2386T>C | |
| ENST00000644578.1:c.*177T>C (TBCE) | ENSP00000495953.1:n.*177T>C | |
| ENST00000645205.1:c.*177T>C | ENSP00000495823.1:n.*177T>C | |
| ENST00000645351.1:c.*177T>C | ENSP00000494319.1:n.*177T>C | |
| ENST00000645578.1:c.*1535T>C | ENSP00000496495.1:n.*1535T>C | |
| ENST00000645582.1:c.*1591T>C (TBCE) | ENSP00000494980.1:n.*1591T>C | |
| ENST00000645655.1:c.*177T>C | ENSP00000495202.1:n.*177T>C | |
| ENST00000646463.1:c.*1526T>C (TBCE) | ENSP00000494541.1:n.*1526T>C | |
| ENST00000646536.1:c.*1055T>C (TBCE) | ENSP00000494801.1:n.*1055T>C | |
| ENST00000646821.1:c.*1051T>C (TBCE) | ENSP00000495257.1:n.*1051T>C | |
| ENST00000647151.1:c.485T>C (TBCE) | ENSP00000495125.1:n.485T>C | |
| ENST00000647233.1:n.2741T>C (TBCE) | ||
| ENST00000647418.1:c.*1535T>C (TBCE) | ENSP00000493552.1:n.*1535T>C | |
| ENST00000651186.1:c.*177T>C (TBCE) | ENSP00000498645.1:n.*177T>C | |
| ENST00000675193.1:c.*1710A>G (B3GALNT2) | ENSP00000502069.1:n.*1710A>G | |
| ENST00000366601.7:c.*177T>C | ENSP00000355560.3:n.*177T>C | |
| ENST00000406207.4:c.*177T>C | ENSP00000384571.1:n.*177T>C | |
| ENST00000472011.5:n.1813T>C | ||
| ENST00000543662.3:c.*177T>C | ENSP00000439170.1:n.*177T>C | |
| NM_001079515.2:c.*177T>C (TBCE) | NP_001072983.1:n.*177T>C | |
| NM_001287801.1:c.*177T>C (TBCE) | NP_001274730.1:n.*177T>C | |
| NM_001287802.1:c.*177T>C (TBCE) | NP_001274731.1:n.*177T>C | |
| NM_003193.4:c.*177T>C (TBCE) | NP_003184.1:n.*177T>C | |
| NM_152490.4:c.*1267A>G (B3GALNT2) | NP_689703.1:n.*1267A>G | |
| XM_006711749.2:c.1469+1301A>G (B3GALNT2) | XP_006711812.1:n.1469+1301A>G | |
| XM_006711749.3:c.1469+1301A>G (B3GALNT2) | XP_006711812.1:n.1469+1301A>G | |
| XM_017000394.1:c.*1267A>G (B3GALNT2) | XP_016855883.1:n.*1267A>G | |
| XM_017000395.1:c.*1446A>G (B3GALNT2) | XP_016855884.1:n.*1446A>G | |
| XR_001736987.1:n.2874A>G (B3GALNT2) | ||
| XR_001736989.1:n.2795A>G (B3GALNT2) | ||
| XR_001736990.1:n.2757A>G (B3GALNT2) | ||
| NM_003193.5:c.*177T>C (TBCE) MANE Select | NP_003184.1:n.*177T>C | |
| NM_152490.5:c.*1267A>G (B3GALNT2) MANE Select | NP_689703.1:n.*1267A>G | |
| NM_001079515.3:c.*177T>C (TBCE) | NP_001072983.1:n.*177T>C | |
| NM_001287801.2:c.*177T>C (TBCE) | NP_001274730.1:n.*177T>C | |
| NM_001287802.2:c.*177T>C (TBCE) | NP_001274731.1:n.*177T>C |