Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117819678G>A , CM000670.2:g.117819678G>A | GRCh38 |
| NC_000008.10:g.118831917G>A , CM000670.1:g.118831917G>A | GRCh37 |
| NC_000008.9:g.118901098G>A | NCBI36 |
| NG_007455.2:g.297142C>T , LRG_493:g.297142C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.1534C>T MANE Select | NP_000118.2:p.Gln512Ter |
| ENST00000378204.7:c.1534C>T MANE Select | ENSP00000367446.3:p.Gln512Ter |
| NM_000127.2:c.1534C>T , LRG_493t1:c.1534C>T | NP_000118.2:p.Gln512Ter |
| ENST00000378204.6:c.1534C>T | ENSP00000367446.2:p.Gln512Ter |
| ENST00000437196.1:c.*425C>T | ENSP00000407299.1:n.*425C>T |
| ENST00000684189.1:n.1001C>T |