Linked Data
gnomAD v4:
1-55040048-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55040048C>A , CM000663.2:g.55040048C>A | GRCh38 |
| NC_000001.10:g.55505721C>A , CM000663.1:g.55505721C>A | GRCh37 |
| NC_000001.9:g.55278309C>A | NCBI36 |
| NG_009061.1:g.5502C>A , LRG_275:g.5502C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.207+4C>A | ENSP00000501161.2:n.207+4C>A | |
| ENST00000710286.1:c.564+4C>A | ENSP00000518176.1:n.564+4C>A | |
| ENST00000673726.1:c.207+4C>A | ENSP00000501004.1:n.207+4C>A | |
| ENST00000302118.5:c.207+4C>A MANE Select | ENSP00000303208.5:n.207+4C>A | |
| NM_174936.3:c.207+4C>A , LRG_275t1:c.207+4C>A | NP_777596.2:n.207+4C>A | |
| NM_174936.4:c.207+4C>A MANE Select | NP_777596.2:n.207+4C>A |