Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813791C= , CM000671.2:g.129813791C= | GRCh38 |
| NC_000009.11:g.132576070C= , CM000671.1:g.132576070C= | GRCh37 |
| NC_000009.10:g.131615891C= | NCBI36 |
| NG_008049.1:g.15372G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*181G= MANE Select | ENSP00000345719.4:n.*181G= | |
| ENST00000651202.1:c.*448G= | ENSP00000498222.1:n.*448G= | |
| ENST00000351698.4:c.*181G= | ENSP00000345719.4:n.*181G= | |
| ENST00000474192.1:n.764G= | ||
| NM_000113.2:c.*181G= | NP_000104.1:n.*181G= | |
| XR_929731.3:n.1375G= | ||
| NM_000113.3:c.*181G= MANE Select | NP_000104.1:n.*181G= |