Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690454G>C , CM000685.2:g.153690454G>C | GRCh38 |
| NC_000023.10:g.152955909G>C , CM000685.1:g.152955909G>C | GRCh37 |
| NC_000023.9:g.152609103G>C | NCBI36 |
| NG_012016.1:g.7158G>C | |
| NG_012016.2:g.7158G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005629.4:c.342G>C MANE Select | NP_005620.1:p.Gln114His |
| ENST00000253122.10:c.342G>C MANE Select | ENSP00000253122.5:p.Gln114His |
| NM_001142805.1:c.342G>C | NP_001136277.1:p.Gln114His |
| NM_001142805.2:c.342G>C | NP_001136277.1:p.Gln114His |
| NM_001142806.1:c.-4G>C | NP_001136278.1:n.-4G>C |
| NM_005629.3:c.342G>C | NP_005620.1:p.Gln114His |
| ENST00000253122.9:c.342G>C | ENSP00000253122.5:p.Gln114His |
| ENST00000430077.6:c.-4G>C | ENSP00000403041.2:n.-4G>C |
| ENST00000476466.1:n.194G>C | |
| ENST00000675713.1:n.96G>C |