Linked Data
dbSNP Id:
rs367588954
gnomAD v2:
13-46629971-C-G
gnomAD v3:
13-46055836-C-G
gnomAD v4:
13-46055836-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46055836C>G , CM000675.2:g.46055836C>G | GRCh38 |
| NC_000013.10:g.46629971C>G , CM000675.1:g.46629971C>G | GRCh37 |
| NC_000013.9:g.45527972C>G | NCBI36 |
| NG_032893.1:g.54241G>C | |
| NG_032893.2:g.54198G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000181383.10:c.1013G>C (CPB2) MANE Select | ENSP00000181383.4:p.Ser338Thr | |
| ENST00000439329.5:c.902G>C (CPB2) | ENSP00000400714.3:p.Ser301Thr | |
| ENST00000675730.1:c.*145G>C (CPB2) | ENSP00000502038.1:n.*145G>C | |
| ENST00000181383.8:c.1013G>C (CPB2) | ENSP00000181383.4:p.Ser338Thr | |
| ENST00000439329.4:c.902G>C (CPB2) | ENSP00000400714.3:p.Ser301Thr | |
| NM_001278541.1:c.902G>C (CPB2) | NP_001265470.1:p.Ser301Thr | |
| NM_001872.4:c.1013G>C (CPB2) | NP_001863.3:p.Ser338Thr | |
| NR_046226.1:n.118+2871C>G (CPB2-AS1) | ||
| NR_046227.1:n.118+2871C>G (CPB2-AS1) | ||
| XM_017020393.2:c.986G>C (CPB2) | XP_016875882.1:p.Ser329Thr | |
| NM_001872.5:c.1013G>C (CPB2) MANE Select | NP_001863.3:p.Ser338Thr | |
| NM_001278541.2:c.902G>C (CPB2) | NP_001265470.1:p.Ser301Thr |