Linked Data
gnomAD v4:
5-111071697-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071697C>A , CM000667.2:g.111071697C>A | GRCh38 |
| NC_000005.9:g.110407395C>A , CM000667.1:g.110407395C>A | GRCh37 |
| NC_000005.8:g.110435294C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.3:c.-194C>A | ENSP00000339804.3:n.-194C>A | |
| ENST00000420978.6:c.34+180C>A | ENSP00000399099.2:n.34+180C>A | |
| NM_033035.4:c.-194C>A | NP_149024.1:n.-194C>A | |
| NR_045089.1:n.1438+180C>A | ||
| NR_045089.2:n.1456+180C>A |