Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117807342A= , CM000670.2:g.117807342A= | GRCh38 |
| NC_000008.10:g.118819581A= , CM000670.1:g.118819581A= | GRCh37 |
| NC_000008.9:g.118888762A= | NCBI36 |
| NG_007455.2:g.309478T= , LRG_493:g.309478T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.1225T= | ||
| ENST00000378204.7:c.1758T= MANE Select | ENSP00000367446.3:p.Pro586= | |
| ENST00000378204.6:c.1758T= | ENSP00000367446.2:p.Pro586= | |
| ENST00000437196.1:c.*649T= | ENSP00000407299.1:n.*649T= | |
| NM_000127.2:c.1758T= , LRG_493t1:c.1758T= | NP_000118.2:p.Pro586= | |
| NM_000127.3:c.1758T= MANE Select | NP_000118.2:p.Pro586= |