Linked Data
gnomAD v4:
1-55063551-G-A
COSMIC:
COSM6191840
MyVariant Identifiers:
chr1:g.55529224G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063551G>A , CM000663.2:g.55063551G>A | GRCh38 |
| NC_000001.10:g.55529224G>A , CM000663.1:g.55529224G>A | GRCh37 |
| NC_000001.9:g.55301812G>A | NCBI36 |
| NG_009061.1:g.29005G>A , LRG_275:g.29005G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*386G>A | ENSP00000501161.2:n.*386G>A | |
| ENST00000710286.1:c.2403G>A | ENSP00000518176.1:p.Arg801= | |
| ENST00000673903.1:c.1671G>A | ENSP00000501257.1:p.Arg557= | |
| ENST00000302118.5:c.2046G>A MANE Select | ENSP00000303208.5:p.Arg682= | |
| ENST00000490692.1:n.2592G>A | ||
| NM_174936.3:c.2046G>A , LRG_275t1:c.2046G>A | NP_777596.2:p.Arg682= | |
| NR_110451.1:n.1653G>A | ||
| XM_011541193.1:c.1167G>A | XP_011539495.1:p.Arg389= | |
| NM_174936.4:c.2046G>A MANE Select | NP_777596.2:p.Arg682= | |
| NR_110451.2:n.1653G>A |