Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10681071C>A , CM000667.2:g.10681071C>A | GRCh38 |
| NC_000005.9:g.10681183C>A , CM000667.1:g.10681183C>A | GRCh37 |
| NC_000005.8:g.10734183C>A | NCBI36 |
| NG_011546.1:g.85205G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004394.3:c.294G>T MANE Select | NP_004385.1:p.Gln98His |
| ENST00000230895.11:c.294G>T MANE Select | ENSP00000230895.7:p.Gln98His |
| NM_001291963.1:c.251G>T | NP_001278892.1:p.Ser84Ile |
| NM_001291963.2:c.251G>T | NP_001278892.1:p.Ser84Ile |
| NM_004394.2:c.294G>T | NP_004385.1:p.Gln98His |
| ENST00000230895.10:c.294G>T | ENSP00000230895.6:p.Gln98His |
| ENST00000432074.2:c.251G>T | ENSP00000394163.2:p.Ser84Ile |