Linked Data
gnomAD v4:
20-31820126-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31820126A>C , CM000682.2:g.31820126A>C | GRCh38 |
| NC_000020.10:g.30407929A>C , CM000682.1:g.30407929A>C | GRCh37 |
| NC_000020.9:g.29871590A>C | NCBI36 |
| NG_012847.1:g.5752A>C , LRG_392:g.5752A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.53A>C MANE Select | ENSP00000365152.4:p.Asp18Ala | |
| ENST00000375985.4:c.53A>C | ENSP00000365152.4:p.Asp18Ala | |
| ENST00000375994.6:c.53A>C | ENSP00000365162.2:p.Asp18Ala | |
| NM_033118.3:c.53A>C , LRG_392t1:c.53A>C | NP_149109.1:p.Asp18Ala | |
| XR_244155.1:n.218A>C | ||
| NM_033118.4:c.53A>C MANE Select | NP_149109.1:p.Asp18Ala |