Linked Data
gnomAD v4:
1-55063538-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063538G>A , CM000663.2:g.55063538G>A | GRCh38 |
| NC_000001.10:g.55529211G>A , CM000663.1:g.55529211G>A | GRCh37 |
| NC_000001.9:g.55301799G>A | NCBI36 |
| NG_009061.1:g.28992G>A , LRG_275:g.28992G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*373G>A | ENSP00000501161.2:n.*373G>A | |
| ENST00000710286.1:c.2390G>A | ENSP00000518176.1:p.Cys797Tyr | |
| ENST00000673903.1:c.1658G>A | ENSP00000501257.1:p.Cys553Tyr | |
| ENST00000302118.5:c.2033G>A MANE Select | ENSP00000303208.5:p.Cys678Tyr | |
| ENST00000490692.1:n.2579G>A | ||
| NM_174936.3:c.2033G>A , LRG_275t1:c.2033G>A | NP_777596.2:p.Cys678Tyr | |
| NR_110451.1:n.1640G>A | ||
| XM_011541193.1:c.1154G>A | XP_011539495.1:p.Cys385Tyr | |
| NM_174936.4:c.2033G>A MANE Select | NP_777596.2:p.Cys678Tyr | |
| NR_110451.2:n.1640G>A |