Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813719G= , CM000671.2:g.129813719G= | GRCh38 |
| NC_000009.11:g.132575998G= , CM000671.1:g.132575998G= | GRCh37 |
| NC_000009.10:g.131615819G= | NCBI36 |
| NG_008049.1:g.15444C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*253C= MANE Select | ENSP00000345719.4:n.*253C= | |
| ENST00000651202.1:c.*520C= | ENSP00000498222.1:n.*520C= | |
| ENST00000351698.4:c.*253C= | ENSP00000345719.4:n.*253C= | |
| ENST00000474192.1:n.836C= | ||
| NM_000113.2:c.*253C= | NP_000104.1:n.*253C= | |
| XR_929731.3:n.1447C= | ||
| NM_000113.3:c.*253C= MANE Select | NP_000104.1:n.*253C= |