Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172660106G>C , CM000663.2:g.172660106G>C | GRCh38 |
| NC_000001.10:g.172629246G>C , CM000663.1:g.172629246G>C | GRCh37 |
| NC_000001.9:g.170895869G>C | NCBI36 |
| NG_007269.1:g.6062G>C , LRG_58:g.6062G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000639.3:c.360G>C MANE Select | NP_000630.1:p.Gln120His |
| ENST00000367721.3:c.360G>C MANE Select | ENSP00000356694.2:p.Gln120His |
| NM_000639.2:c.360G>C | NP_000630.1:p.Gln120His |
| NM_001302746.1:c.348+557G>C | NP_001289675.1:n.348+557G>C |
| NM_001302746.2:c.348+557G>C | NP_001289675.1:n.348+557G>C |
| ENST00000340030.4:c.348+557G>C | ENSP00000344739.3:n.348+557G>C |
| ENST00000367721.2:c.360G>C | ENSP00000356694.2:p.Gln120His |