Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837170T= , CM000670.2:g.117837170T= | GRCh38 |
| NC_000008.10:g.118849409T= , CM000670.1:g.118849409T= | GRCh37 |
| NC_000008.9:g.118918590T= | NCBI36 |
| NG_007455.2:g.279650A= , LRG_493:g.279650A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.461A= | ||
| ENST00000378204.7:c.994A= MANE Select | ENSP00000367446.3:p.Thr332= | |
| ENST00000436216.2:c.362A= | ||
| ENST00000378204.6:c.994A= | ENSP00000367446.2:p.Thr332= | |
| ENST00000436216.1:c.362A= | ||
| ENST00000437196.1:c.74-1619A= | ENSP00000407299.1:n.74-1619A= | |
| NM_000127.2:c.994A= , LRG_493t1:c.994A= | NP_000118.2:p.Thr332= | |
| NM_000127.3:c.994A= MANE Select | NP_000118.2:p.Thr332= |