Linked Data
dbSNP Id:
rs763994534
ExAC:
1:235613683 G / C
gnomAD v2:
1-235613683-G-C
gnomAD v3:
1-235450368-G-C
gnomAD v4:
1-235450368-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235450368G>C , CM000663.2:g.235450368G>C | GRCh38 |
| NC_000001.10:g.235613683G>C , CM000663.1:g.235613683G>C | GRCh37 |
| NC_000001.9:g.233680306G>C | NCBI36 |
| NG_009230.1:g.87956G>C | |
| NG_033219.2:g.59114C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366600.8:c.1369-28C>G (B3GALNT2) MANE Select | ENSP00000355559.3:n.1369-28C>G | |
| ENST00000642610.2:c.*1606G>C (TBCE) MANE Select | ENSP00000494796.1:n.*1606G>C | |
| ENST00000675193.1:c.*309-28C>G (B3GALNT2) | ENSP00000502069.1:n.*309-28C>G | |
| ENST00000675555.1:c.1147-28C>G (B3GALNT2) | ENSP00000501896.1:n.1147-28C>G | |
| ENST00000676288.1:c.*989C>G (B3GALNT2) | ENSP00000502392.1:n.*989C>G | |
| ENST00000366600.7:c.1369-28C>G (B3GALNT2) | ENSP00000355559.3:n.1369-28C>G | |
| NM_152490.4:c.1369-28C>G (B3GALNT2) | NP_689703.1:n.1369-28C>G | |
| XM_006711749.2:c.1369-28C>G (B3GALNT2) | XP_006711812.1:n.1369-28C>G | |
| XM_006711749.3:c.1369-28C>G (B3GALNT2) | XP_006711812.1:n.1369-28C>G | |
| XM_017000394.1:c.1492-28C>G (B3GALNT2) | XP_016855883.1:n.1492-28C>G | |
| XM_017000395.1:c.*45-28C>G (B3GALNT2) | XP_016855884.1:n.*45-28C>G | |
| XR_001736987.1:n.1473-28C>G (B3GALNT2) | ||
| XR_001736989.1:n.1394-28C>G (B3GALNT2) | ||
| XR_001736990.1:n.1356-28C>G (B3GALNT2) | ||
| NM_003193.5:c.*1606G>C (TBCE) MANE Select | NP_003184.1:n.*1606G>C | |
| NM_152490.5:c.1369-28C>G (B3GALNT2) MANE Select | NP_689703.1:n.1369-28C>G | |
| NM_001079515.3:c.*1606G>C (TBCE) | NP_001072983.1:n.*1606G>C | |
| NM_001287801.2:c.*1606G>C (TBCE) | NP_001274730.1:n.*1606G>C | |
| NM_001287802.2:c.*1606G>C (TBCE) | NP_001274731.1:n.*1606G>C |