Linked Data
gnomAD v4:
19-918616-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.918616C>A , CM000681.2:g.918616C>A | GRCh38 |
| NC_000019.9:g.918616C>A , CM000681.1:g.918616C>A | GRCh37 |
| NC_000019.8:g.869616C>A | NCBI36 |
| NG_008277.1:g.6275C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234371.10:c.317C>A MANE Select | ENSP00000234371.3:p.Pro106His | |
| ENST00000234371.9:c.317C>A | ENSP00000234371.3:p.Pro106His | |
| ENST00000592648.1:c.244+870C>A | ENSP00000467666.1:n.244+870C>A | |
| ENST00000606939.2:c.317C>A | ENSP00000475639.1:p.Pro106His | |
| NM_032551.4:c.317C>A | NP_115940.2:p.Pro106His | |
| XM_017027382.1:c.317C>A | XP_016882871.1:p.Pro106His | |
| NM_032551.5:c.317C>A MANE Select | NP_115940.2:p.Pro106His |