Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31831736T>C , CM000682.2:g.31831736T>C | GRCh38 |
| NC_000020.10:g.30419539T>C , CM000682.1:g.30419539T>C | GRCh37 |
| NC_000020.9:g.29883200T>C | NCBI36 |
| NG_012847.1:g.17362T>C , LRG_392:g.17362T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.1458T>C MANE Select | ENSP00000365152.4:p.Asp486= | |
| ENST00000375985.4:c.1458T>C | ENSP00000365152.4:p.Asp486= | |
| ENST00000375994.6:c.1458T>C | ENSP00000365162.2:p.Asp486= | |
| ENST00000468730.1:n.396T>C | ||
| NM_033118.3:c.1458T>C , LRG_392t1:c.1458T>C | NP_149109.1:p.Asp486= | |
| XR_244155.1:n.3778T>C | ||
| NM_033118.4:c.1458T>C MANE Select | NP_149109.1:p.Asp486= |