Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116765215C>A , CM000668.2:g.116765215C>A | GRCh38 |
| NC_000006.11:g.117086378C>A , CM000668.1:g.117086378C>A | GRCh37 |
| NC_000006.10:g.117193071C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001085480.3:c.213G>T MANE Select | NP_001078949.1:p.Gln71His |
| ENST00000368557.6:c.213G>T MANE Select | ENSP00000357545.4:p.Gln71His |
| NM_001085480.2:c.213G>T | NP_001078949.1:p.Gln71His |
| ENST00000368557.5:c.213G>T | ENSP00000357545.4:p.Gln71His |