Linked Data
gnomAD v4:
16-86510597-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86510597C>A , CM000678.2:g.86510597C>A | GRCh38 |
| NC_000016.9:g.86544203C>A , CM000678.1:g.86544203C>A | GRCh37 |
| NC_000016.8:g.85101704C>A | NCBI36 |
| NG_016273.1:g.5071C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262426.6:c.28C>A MANE Select | ENSP00000262426.4:p.Pro10Thr | |
| ENST00000262426.5:c.28C>A | ENSP00000262426.4:p.Pro10Thr | |
| NM_001451.2:c.28C>A | NP_001442.2:p.Pro10Thr | |
| NM_001451.3:c.28C>A MANE Select | NP_001442.2:p.Pro10Thr |