Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.120538902A>G , CM000670.2:g.120538902A>G | GRCh38 |
| NC_000008.10:g.121551142A>G , CM000670.1:g.121551142A>G | GRCh37 |
| NC_000008.9:g.121620323A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021021.4:c.1592T>C (SNTB1) MANE Select | NP_066301.1:p.Ile531Thr |
| ENST00000517992.2:c.1592T>C (SNTB1) MANE Select | ENSP00000431124.1:p.Ile531Thr |
| NM_021021.3:c.1592T>C (SNTB1) | NP_066301.1:p.Ile531Thr |
| ENST00000395601.7:c.1592T>C (SNTB1) | ENSP00000378965.3:p.Ile531Thr |
| ENST00000517992.1:c.1592T>C (SNTB1) | ENSP00000431124.1:p.Ile531Thr |
| ENST00000519556.1:c.347+43A>G (MTBP) | |
| ENST00000519841.1:n.169+39A>G (MTBP) | |
| ENST00000648490.1:c.*468T>C (SNTB1) | ENSP00000497707.1:n.*468T>C |