Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24952545T>G , CM000670.2:g.24952545T>G | GRCh38 |
| NC_000008.10:g.24810058T>G , CM000670.1:g.24810058T>G | GRCh37 |
| NC_000008.9:g.24865975T>G | NCBI36 |
| NG_008492.1:g.9073A>C , LRG_259:g.9073A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000610854.2:c.*265A>C MANE Select | ENSP00000482169.2:n.*265A>C | |
| ENST00000610854.1:c.*265A>C | ENSP00000482169.1:n.*265A>C | |
| ENST00000619417.1:c.*762A>C | ENSP00000483690.1:n.*762A>C | |
| NM_006158.4:c.*265A>C , LRG_259t1:c.*265A>C | NP_006149.2:n.*265A>C | |
| NM_006158.5:c.*265A>C MANE Select | NP_006149.2:n.*265A>C |