Linked Data
dbSNP Id:
rs1595110146
gnomAD v4:
12-57750660-G-T
MyVariant Identifiers:
chr12:g.58144443G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57750660G>T , CM000674.2:g.57750660G>T | GRCh38 |
| NC_000012.11:g.58144443G>T , CM000674.1:g.58144443G>T | GRCh37 |
| NC_000012.10:g.56430710G>T | NCBI36 |
| NG_007484.2:g.6722C>A , LRG_490:g.6722C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.628C>A MANE Select | ENSP00000257904.5:p.Arg210= | |
| ENST00000257904.10:c.628C>A | ENSP00000257904.5:p.Arg210= | |
| ENST00000312990.10:c.276C>A | ENSP00000316889.6:p.Val92= | |
| ENST00000546489.5:c.406C>A | ENSP00000447779.1:p.Arg136= | |
| ENST00000547281.5:c.406C>A | ENSP00000447274.1:p.Arg136= | |
| ENST00000549606.5:c.-157-1156C>A | ENSP00000447005.1:n.-157-1156C>A | |
| ENST00000550419.5:c.523-97C>A | ENSP00000448098.1:n.523-97C>A | |
| ENST00000551888.5:n.454C>A | ||
| ENST00000553237.5:c.*267C>A | ENSP00000448885.1:n.*267C>A | |
| NM_000075.3:c.628C>A | NP_000066.1:p.Arg210= | |
| NM_000075.4:c.628C>A MANE Select | NP_000066.1:p.Arg210= |