Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168502382A>T , CM000667.2:g.168502382A>T | GRCh38 |
| NC_000005.9:g.167929387A>T , CM000667.1:g.167929387A>T | GRCh37 |
| NC_000005.8:g.167861965A>T | NCBI36 |
| NG_041809.1:g.20925A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002887.4:c.1057+277A>T MANE Select | NP_002878.2:n.1057+277A>T |
| ENST00000231572.8:c.1057+277A>T MANE Select | ENSP00000231572.3:n.1057+277A>T |
| NM_002887.3:c.1057+277A>T | NP_002878.2:n.1057+277A>T |
| ENST00000231572.7:c.1057+277A>T | ENSP00000231572.3:n.1057+277A>T |
| ENST00000518757.5:n.570+277A>T | |
| ENST00000520013.5:c.*558+277A>T | ENSP00000429030.1:n.*558+277A>T |