Linked Data
gnomAD v4:
3-14130919-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14130919G>A , CM000665.2:g.14130919G>A | GRCh38 |
| NC_000003.11:g.14172419G>A , CM000665.1:g.14172419G>A | GRCh37 |
| NC_000003.10:g.14147420G>A | NCBI36 |
| NG_008975.1:g.10980G>A , LRG_435:g.10980G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432444.2:c.*290G>A | ENSP00000395617.1:n.*290G>A | |
| ENST00000306077.5:c.260G>A MANE Select | ENSP00000303992.5:p.Arg87Lys | |
| ENST00000306077.4:c.260G>A | ENSP00000303992.4:p.Arg87Lys | |
| ENST00000432444.1:c.*290G>A | ENSP00000395617.1:n.*290G>A | |
| NM_024334.2:c.260G>A , LRG_435t1:c.260G>A | NP_077310.1:p.Arg87Lys | |
| XM_011534109.1:c.155G>A | XP_011532411.1:p.Arg52Lys | |
| XM_017007176.2:c.155G>A | XP_016862665.1:p.Arg52Lys | |
| NM_024334.3:c.260G>A MANE Select | NP_077310.1:p.Arg87Lys |