Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837122G= , CM000670.2:g.117837122G= | GRCh38 |
| NC_000008.10:g.118849361G= , CM000670.1:g.118849361G= | GRCh37 |
| NC_000008.9:g.118918542G= | NCBI36 |
| NG_007455.2:g.279698C= , LRG_493:g.279698C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.509C= | ||
| ENST00000378204.7:c.1042C= MANE Select | ENSP00000367446.3:p.Leu348= | |
| ENST00000436216.2:c.410C= | ||
| ENST00000378204.6:c.1042C= | ENSP00000367446.2:p.Leu348= | |
| ENST00000436216.1:c.410C= | ||
| ENST00000437196.1:c.74-1571C= | ENSP00000407299.1:n.74-1571C= | |
| NM_000127.2:c.1042C= , LRG_493t1:c.1042C= | NP_000118.2:p.Leu348= | |
| NM_000127.3:c.1042C= MANE Select | NP_000118.2:p.Leu348= |