Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117807351C>A , CM000670.2:g.117807351C>A | GRCh38 |
| NC_000008.10:g.118819590C>A , CM000670.1:g.118819590C>A | GRCh37 |
| NC_000008.9:g.118888771C>A | NCBI36 |
| NG_007455.2:g.309469G>T , LRG_493:g.309469G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.1749G>T MANE Select | NP_000118.2:p.Gln583His |
| ENST00000378204.7:c.1749G>T MANE Select | ENSP00000367446.3:p.Gln583His |
| NM_000127.2:c.1749G>T , LRG_493t1:c.1749G>T | NP_000118.2:p.Gln583His |
| ENST00000378204.6:c.1749G>T | ENSP00000367446.2:p.Gln583His |
| ENST00000437196.1:c.*640G>T | ENSP00000407299.1:n.*640G>T |
| ENST00000684189.1:n.1216G>T |