Linked Data
gnomAD v4:
5-149981879-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981879G>A , CM000667.2:g.149981879G>A | GRCh38 |
| NC_000005.9:g.149361442G>A , CM000667.1:g.149361442G>A | GRCh37 |
| NC_000005.8:g.149341635G>A | NCBI36 |
| NG_007147.2:g.22997G>A , LRG_684:g.22997G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.*66G>A MANE Select | ENSP00000286298.4:n.*66G>A | |
| ENST00000286298.4:c.*66G>A | ENSP00000286298.4:n.*66G>A | |
| ENST00000503336.1:c.372+3528G>A | ENSP00000426053.1:n.372+3528G>A | |
| NM_000112.3:c.*66G>A , LRG_684t1:c.*66G>A | NP_000103.2:n.*66G>A | |
| XM_017009191.2:c.*13-50G>A | XP_016864680.1:n.*13-50G>A | |
| NM_000112.4:c.*66G>A MANE Select | NP_000103.2:n.*66G>A |