Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94304471C>G , CM000676.2:g.94304471C>G | GRCh38 |
| NC_000014.8:g.94770808C>G , CM000676.1:g.94770808C>G | GRCh37 |
| NC_000014.7:g.93840561C>G | NCBI36 |
| NG_011796.1:g.23881G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001756.4:c.1165G>C MANE Select | NP_001747.3:p.Asp389His |
| ENST00000341584.4:c.1165G>C MANE Select | ENSP00000342850.3:p.Asp389His |
| NM_001756.3:c.1165G>C | NP_001747.2:p.Asp389His |
| ENST00000341584.3:c.1165G>C | ENSP00000342850.3:p.Asp389His |
| ENST00000555056.1:c.*477G>C | ENSP00000451045.1:n.*477G>C |