Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420844A= , CM000676.2:g.23420844A= | GRCh38 |
| NC_000014.8:g.23890053A= , CM000676.1:g.23890053A= | GRCh37 |
| NC_000014.7:g.22959893A= | NCBI36 |
| NG_007884.1:g.19818T= , LRG_384:g.19818T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3336+114T= MANE Select | ENSP00000347507.3:n.3336+114T= | |
| ENST00000355349.3:c.3336+114T= | ENSP00000347507.3:n.3336+114T= | |
| NM_000257.3:c.3336+114T= | NP_000248.2:n.3336+114T= | |
| XR_245686.3:n.3444+114T= | ||
| XM_017021340.1:c.3336+114T= | XP_016876829.1:n.3336+114T= | |
| NM_000257.4:c.3336+114T= MANE Select | NP_000248.2:n.3336+114T= |