Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168497118T>C , CM000667.2:g.168497118T>C | GRCh38 |
| NC_000005.9:g.167924123T>C , CM000667.1:g.167924123T>C | GRCh37 |
| NC_000005.8:g.167856701T>C | NCBI36 |
| NG_041809.1:g.15661T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002887.4:c.702-110T>C MANE Select | NP_002878.2:n.702-110T>C |
| ENST00000231572.8:c.702-110T>C MANE Select | ENSP00000231572.3:n.702-110T>C |
| NM_002887.3:c.702-110T>C | NP_002878.2:n.702-110T>C |
| ENST00000231572.7:c.702-110T>C | ENSP00000231572.3:n.702-110T>C |
| ENST00000518757.5:n.107T>C | |
| ENST00000520013.5:c.*203-110T>C | ENSP00000429030.1:n.*203-110T>C |