Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102501333G= , CM000666.2:g.102501333G= | GRCh38 |
| NC_000004.11:g.103422490G= , CM000666.1:g.103422490G= | GRCh37 |
| NC_000004.10:g.103641522G= | NCBI36 |
| NG_050628.1:g.5005G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507079.6:c.-509G= | ENSP00000426147.2:n.-509G= | |
| ENST00000226574.8:c.-463G= | ENSP00000226574.4:n.-463G= | |
| ENST00000394820.8:c.-463G= | ENSP00000378297.4:n.-463G= | |
| NM_001165412.1:c.-463G= | NP_001158884.1:n.-463G= | |
| NM_003998.3:c.-463G= | NP_003989.2:n.-463G= | |
| XM_011532467.1:c.559C= | XP_011530769.1:p.Leu187= | |
| NR_136202.1:n.48+1106C= | ||
| XM_024454067.1:c.-509G= | XP_024309835.1:n.-509G= | |
| XM_024454069.1:c.-509G= | XP_024309837.1:n.-509G= |