Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223599190C>G , CM000664.2:g.223599190C>G | GRCh38 |
| NC_000002.11:g.224463908C>G , CM000664.1:g.224463908C>G | GRCh37 |
| NC_000002.10:g.224172152C>G | NCBI36 |
| NG_027998.1:g.8310G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305409.3:c.93G>C MANE Select | ENSP00000304133.2:p.Gln31His | |
| ENST00000305409.2:c.93G>C | ENSP00000304133.2:p.Gln31His | |
| ENST00000421386.1:c.93G>C | ENSP00000394702.1:p.Gln31His | |
| ENST00000433889.1:c.93G>C | ENSP00000415468.1:p.Gln31His | |
| NM_003469.4:c.93G>C | NP_003460.2:p.Gln31His | |
| NM_003469.5:c.93G>C MANE Select | NP_003460.2:p.Gln31His |