Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188996406A>C , CM000664.2:g.188996406A>C | GRCh38 |
| NC_000002.11:g.189861132A>C , CM000664.1:g.189861132A>C | GRCh37 |
| NC_000002.10:g.189569377A>C | NCBI36 |
| NG_007404.1:g.27034A>C , LRG_3:g.27034A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000090.4:c.1671A>C MANE Select | NP_000081.2:p.Gln557His |
| ENST00000304636.9:c.1671A>C MANE Select | ENSP00000304408.4:p.Gln557His |
| NM_000090.3:c.1671A>C , LRG_3t1:c.1671A>C | NP_000081.1:p.Gln557His |
| ENST00000304636.7:c.1671A>C | ENSP00000304408.3:p.Gln557His |
| ENST00000317840.9:c.1671A>C | ENSP00000315243.6:p.Gln557His |
| ENST00000450867.2:c.1572A>C | ENSP00000415346.2:p.Gln524His |