Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.170283281C>G , CM000668.2:g.170283281C>G | GRCh38 |
| NC_000006.11:g.170592369C>G , CM000668.1:g.170592369C>G | GRCh37 |
| NC_000006.10:g.170434294C>G | NCBI36 |
| NG_027940.1:g.12329G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005618.4:c.1998G>C MANE Select | NP_005609.3:p.Gln666His |
| ENST00000366756.4:c.1998G>C MANE Select | ENSP00000355718.3:p.Gln666His |
| NM_005618.3:c.1998G>C | NP_005609.3:p.Gln666His |
| ENST00000366756.3:c.1998G>C | ENSP00000355718.3:p.Gln666His |
| XM_005266934.2:c.1452-176G>C | XP_005266991.1:n.1452-176G>C |
| XM_005266934.4:c.1452-176G>C | XP_005266991.1:n.1452-176G>C |
| XM_011535758.1:c.1998G>C | XP_011534060.1:p.Gln666His |