Linked Data
dbSNP Id:
rs761390546
ExAC:
1:55527202 G / A
gnomAD v2:
1-55527202-G-A
gnomAD v4:
1-55061529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061529G>A , CM000663.2:g.55061529G>A | GRCh38 |
| NC_000001.10:g.55527202G>A , CM000663.1:g.55527202G>A | GRCh37 |
| NC_000001.9:g.55299790G>A | NCBI36 |
| NG_009061.1:g.26983G>A , LRG_275:g.26983G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*176G>A | ENSP00000501161.2:n.*176G>A | |
| ENST00000710286.1:c.2193G>A | ENSP00000518176.1:p.Glu731= | |
| ENST00000673903.1:c.1461G>A | ENSP00000501257.1:p.Glu487= | |
| ENST00000673913.1:c.686G>A | ENSP00000501161.1:n.686G>A | |
| ENST00000302118.5:c.1836G>A MANE Select | ENSP00000303208.5:p.Glu612= | |
| ENST00000490692.1:n.2382G>A | ||
| NM_174936.3:c.1836G>A , LRG_275t1:c.1836G>A | NP_777596.2:p.Glu612= | |
| NR_110451.1:n.1443G>A | ||
| XM_011541193.1:c.957G>A | XP_011539495.1:p.Glu319= | |
| NM_174936.4:c.1836G>A MANE Select | NP_777596.2:p.Glu612= | |
| NR_110451.2:n.1443G>A |