Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30711953G>C , CM000678.2:g.30711953G>C | GRCh38 |
| NC_000016.9:g.30723274G>C , CM000678.1:g.30723274G>C | GRCh37 |
| NC_000016.8:g.30630775G>C | NCBI36 |
| NG_032135.1:g.17813G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006662.3:c.1611G>C MANE Select | NP_006653.2:p.Gln537His |
| ENST00000262518.9:c.1611G>C MANE Select | ENSP00000262518.4:p.Gln537His |
| NM_006662.2:c.1611G>C | NP_006653.2:p.Gln537His |
| ENST00000262518.8:c.1611G>C | ENSP00000262518.4:p.Gln537His |
| ENST00000380361.7:c.1554G>C | ENSP00000369719.3:p.Gln518His |
| ENST00000395059.6:c.1020G>C | ENSP00000378499.3:p.Gln340His |
| ENST00000411466.7:c.1611G>C | ENSP00000405186.3:p.Gln537His |
| ENST00000483083.3:c.710G>C | |
| ENST00000706321.1:c.1611G>C | ENSP00000516346.1:p.Gln537His |