Linked Data
gnomAD v4:
5-149981838-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981838C>A , CM000667.2:g.149981838C>A | GRCh38 |
| NC_000005.9:g.149361401C>A , CM000667.1:g.149361401C>A | GRCh37 |
| NC_000005.8:g.149341594C>A | NCBI36 |
| NG_007147.2:g.22956C>A , LRG_684:g.22956C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.*25C>A MANE Select | ENSP00000286298.4:n.*25C>A | |
| ENST00000286298.4:c.*25C>A | ENSP00000286298.4:n.*25C>A | |
| ENST00000503336.1:c.372+3487C>A | ENSP00000426053.1:n.372+3487C>A | |
| NM_000112.3:c.*25C>A , LRG_684t1:c.*25C>A | NP_000103.2:n.*25C>A | |
| XM_017009191.2:c.*12+13C>A | XP_016864680.1:n.*12+13C>A | |
| NM_000112.4:c.*25C>A MANE Select | NP_000103.2:n.*25C>A |