Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134475191C= , CM000685.2:g.134475191C= | GRCh38 |
| NC_000023.10:g.133609221C= , CM000685.1:g.133609221C= | GRCh37 |
| NC_000023.9:g.133436887C= | NCBI36 |
| NG_012329.1:g.20047C= | |
| NG_012329.2:g.20047C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.145C= MANE Select | ENSP00000298556.7:p.Leu49= | |
| ENST00000298556.7:c.145C= | ENSP00000298556.7:p.Leu49= | |
| ENST00000462974.5:n.303C= | ||
| ENST00000475720.1:n.103C= | ||
| NM_000194.2:c.145C= | NP_000185.1:p.Leu49= | |
| XM_011531328.1:c.163C= | XP_011529630.1:p.Leu55= | |
| NM_000194.3:c.145C= MANE Select | NP_000185.1:p.Leu49= |