Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745825G>C , CM000665.2:g.8745825G>C | GRCh38 |
| NC_000003.11:g.8787511G>C , CM000665.1:g.8787511G>C | GRCh37 |
| NC_000003.10:g.8762511G>C | NCBI36 |
| NG_008797.2:g.17016G>C , LRG_329:g.17016G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.414G>C MANE Select | ENSP00000341940.2:p.Gln138His | |
| ENST00000343849.2:c.414G>C | ENSP00000341940.2:p.Gln138His | |
| ENST00000397368.2:c.414G>C | ENSP00000380525.2:p.Gln138His | |
| ENST00000472766.1:n.155+11835G>C | ||
| NM_001234.4:c.414G>C | NP_001225.1:p.Gln138His | |
| NM_033337.2:c.414G>C , LRG_329t1:c.414G>C | NP_203123.1:p.Gln138His | |
| NM_001234.5:c.414G>C | NP_001225.1:p.Gln138His | |
| NM_033337.3:c.414G>C MANE Select | NP_203123.1:p.Gln138His |