Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168497363C>T , CM000667.2:g.168497363C>T | GRCh38 |
| NC_000005.9:g.167924368C>T , CM000667.1:g.167924368C>T | GRCh37 |
| NC_000005.8:g.167856946C>T | NCBI36 |
| NG_041809.1:g.15906C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002887.4:c.822+15C>T MANE Select | NP_002878.2:n.822+15C>T |
| ENST00000231572.8:c.822+15C>T MANE Select | ENSP00000231572.3:n.822+15C>T |
| NM_002887.3:c.822+15C>T | NP_002878.2:n.822+15C>T |
| ENST00000231572.7:c.822+15C>T | ENSP00000231572.3:n.822+15C>T |
| ENST00000518757.5:n.337+15C>T | |
| ENST00000520013.5:c.*323+15C>T | ENSP00000429030.1:n.*323+15C>T |
| ENST00000520421.1:n.131+15C>T |