Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835444C>T , CM000670.2:g.117835444C>T | GRCh38 |
| NC_000008.10:g.118847683C>T , CM000670.1:g.118847683C>T | GRCh37 |
| NC_000008.9:g.118916864C>T | NCBI36 |
| NG_007455.2:g.281376G>A , LRG_493:g.281376G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.631G>A | ||
| ENST00000378204.7:c.1164G>A MANE Select | ENSP00000367446.3:p.Gln388= | |
| ENST00000436216.2:c.532G>A | ||
| ENST00000378204.6:c.1164G>A | ENSP00000367446.2:p.Gln388= | |
| ENST00000436216.1:c.532G>A | ||
| ENST00000437196.1:c.*55G>A | ENSP00000407299.1:n.*55G>A | |
| NM_000127.2:c.1164G>A , LRG_493t1:c.1164G>A | NP_000118.2:p.Gln388= | |
| NM_000127.3:c.1164G>A MANE Select | NP_000118.2:p.Gln388= |