Linked Data
dbSNP Id:
rs2144399685
gnomAD v4:
18-51046976-C-A
MyVariant Identifiers:
chr18:g.48573346C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51046976C>A , CM000680.2:g.51046976C>A | GRCh38 |
| NC_000018.9:g.48573346C>A , CM000680.1:g.48573346C>A | GRCh37 |
| NC_000018.8:g.46827344C>A | NCBI36 |
| NG_013013.2:g.83937C>A , LRG_318:g.83937C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.-71C>A | ENSP00000465878.2:n.-71C>A | |
| ENST00000589076.6:c.-71C>A | ENSP00000466934.2:n.-71C>A | |
| ENST00000589941.2:c.-71C>A | ENSP00000465874.2:n.-71C>A | |
| ENST00000590061.2:c.-59-12C>A | ENSP00000464772.2:n.-59-12C>A | |
| ENST00000593223.2:c.-71C>A | ENSP00000466118.2:n.-71C>A | |
| ENST00000611848.2:c.-71C>A | ENSP00000478613.2:n.-71C>A | |
| ENST00000342988.8:c.-71C>A MANE Select | ENSP00000341551.3:n.-71C>A | |
| ENST00000342988.7:c.-71C>A | ENSP00000341551.3:n.-71C>A | |
| ENST00000398417.6:c.-71C>A | ENSP00000381452.1:n.-71C>A | |
| ENST00000588256.1:n.391C>A | ||
| ENST00000588860.5:c.-71C>A | ENSP00000465878.1:n.-71C>A | |
| ENST00000589076.5:c.-71C>A | ENSP00000466934.1:n.-71C>A | |
| ENST00000589941.1:c.-71C>A | ENSP00000465874.1:n.-71C>A | |
| ENST00000590061.1:c.-59-12C>A | ENSP00000464772.1:n.-59-12C>A | |
| ENST00000590722.2:c.214C>A | ENSP00000465737.1:p.Leu72Met | |
| ENST00000591914.5:c.-71C>A | ENSP00000466941.1:n.-71C>A | |
| ENST00000592911.5:n.28-1710C>A | ||
| NM_005359.5:c.-71C>A , LRG_318t1:c.-71C>A | NP_005350.1:n.-71C>A | |
| NM_005359.6:c.-71C>A MANE Select | NP_005350.1:n.-71C>A |