Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204159325A= , CM000663.2:g.204159325A= | GRCh38 |
| NC_000001.10:g.204128453A= , CM000663.1:g.204128453A= | GRCh37 |
| NC_000001.9:g.202395076A= | NCBI36 |
| NG_012122.1:g.12013T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.689+74T= MANE Select | ENSP00000272190.8:n.689+74T= | |
| ENST00000638118.1:c.575+74T= | ENSP00000490307.1:n.575+74T= | |
| ENST00000272190.8:c.689+74T= | ENSP00000272190.8:n.689+74T= | |
| NM_000537.3:c.689+74T= | NP_000528.1:n.689+74T= | |
| NM_000537.4:c.689+74T= MANE Select | NP_000528.1:n.689+74T= |