Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168493774T>A , CM000667.2:g.168493774T>A | GRCh38 |
| NC_000005.9:g.167920779T>A , CM000667.1:g.167920779T>A | GRCh37 |
| NC_000005.8:g.167853357T>A | NCBI36 |
| NG_041809.1:g.12317T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002887.4:c.370-120T>A MANE Select | NP_002878.2:n.370-120T>A |
| ENST00000231572.8:c.370-120T>A MANE Select | ENSP00000231572.3:n.370-120T>A |
| NM_002887.3:c.370-120T>A | NP_002878.2:n.370-120T>A |
| ENST00000231572.7:c.370-120T>A | ENSP00000231572.3:n.370-120T>A |
| ENST00000519346.1:n.235-120T>A | |
| ENST00000520013.5:c.370-776T>A | ENSP00000429030.1:n.370-776T>A |
| ENST00000521329.5:c.*311-120T>A | ENSP00000428494.1:n.*311-120T>A |
| ENST00000521939.5:n.383-120T>A | |
| ENST00000522834.5:c.314-120T>A | ENSP00000430035.1:n.314-120T>A |