Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69187451C>A , CM000678.2:g.69187451C>A | GRCh38 |
| NC_000016.9:g.69221354C>A , CM000678.1:g.69221354C>A | GRCh37 |
| NC_000016.8:g.67778855C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006750.4:c.285C>A (SNTB2) MANE Select | NP_006741.1:p.Ser95Arg |
| ENST00000336278.9:c.285C>A (SNTB2) MANE Select | ENSP00000338191.4:p.Ser95Arg |
| NM_006750.3:c.285C>A (SNTB2) | NP_006741.1:p.Ser95Arg |
| NR_172088.1:n.288C>A (SNTB2) | |
| NR_172089.1:n.288C>A (SNTB2) | |
| NR_172090.1:n.288C>A (SNTB2) | |
| ENST00000336278.8:c.285C>A (SNTB2) | ENSP00000338191.4:p.Ser95Arg |
| ENST00000467311.5:c.285C>A (SNTB2) | ENSP00000436443.1:p.Ser95Arg |
| ENST00000567287.2:n.82+20266C>A (UTP4) |