Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837189C>T , CM000670.2:g.117837189C>T | GRCh38 |
| NC_000008.10:g.118849428C>T , CM000670.1:g.118849428C>T | GRCh37 |
| NC_000008.9:g.118918609C>T | NCBI36 |
| NG_007455.2:g.279631G>A , LRG_493:g.279631G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.442G>A | ||
| ENST00000378204.7:c.975G>A MANE Select | ENSP00000367446.3:p.Arg325= | |
| ENST00000436216.2:c.343G>A | ||
| ENST00000378204.6:c.975G>A | ENSP00000367446.2:p.Arg325= | |
| ENST00000436216.1:c.343G>A | ||
| ENST00000437196.1:c.74-1638G>A | ENSP00000407299.1:n.74-1638G>A | |
| NM_000127.2:c.975G>A , LRG_493t1:c.975G>A | NP_000118.2:p.Arg325= | |
| NM_000127.3:c.975G>A MANE Select | NP_000118.2:p.Arg325= |