Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134475194G= , CM000685.2:g.134475194G= | GRCh38 |
| NC_000023.10:g.133609224G= , CM000685.1:g.133609224G= | GRCh37 |
| NC_000023.9:g.133436890G= | NCBI36 |
| NG_012329.1:g.20050G= | |
| NG_012329.2:g.20050G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.148G= MANE Select | ENSP00000298556.7:p.Ala50= | |
| ENST00000298556.7:c.148G= | ENSP00000298556.7:p.Ala50= | |
| ENST00000462974.5:n.306G= | ||
| ENST00000475720.1:n.106G= | ||
| NM_000194.2:c.148G= | NP_000185.1:p.Ala50= | |
| XM_011531328.1:c.166G= | XP_011529630.1:p.Ala56= | |
| NM_000194.3:c.148G= MANE Select | NP_000185.1:p.Ala50= |