Linked Data
ClinVar Variation Id:
876393
dbSNP Id:
rs749928920
ExAC:
1:55509686 G / A
gnomAD v2:
1-55509686-G-A
gnomAD v3:
1-55044013-G-A
gnomAD v4:
1-55044013-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55044013G>A , CM000663.2:g.55044013G>A | GRCh38 |
| NC_000001.10:g.55509686G>A , CM000663.1:g.55509686G>A | GRCh37 |
| NC_000001.9:g.55282274G>A | NCBI36 |
| NG_009061.1:g.9467G>A , LRG_275:g.9467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.378G>A | ENSP00000501161.2:p.Met126Ile | |
| ENST00000710286.1:c.735G>A | ENSP00000518176.1:p.Met245Ile | |
| ENST00000673662.1:n.48G>A | ||
| ENST00000673726.1:c.378G>A | ENSP00000501004.1:p.Met126Ile | |
| ENST00000673903.1:c.3G>A | ENSP00000501257.1:p.Met1Ile | |
| ENST00000302118.5:c.378G>A MANE Select | ENSP00000303208.5:p.Met126Ile | |
| NM_174936.3:c.378G>A , LRG_275t1:c.378G>A | NP_777596.2:p.Met126Ile | |
| NR_110451.1:n.182+3610G>A | ||
| NM_174936.4:c.378G>A MANE Select | NP_777596.2:p.Met126Ile | |
| NR_110451.2:n.182+3610G>A |