Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.72197100G>C , CM000667.2:g.72197100G>C | GRCh38 |
| NC_000005.9:g.71492927G>C , CM000667.1:g.71492927G>C | GRCh37 |
| NC_000005.8:g.71528683G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296755.12:c.3745G>C MANE Select | ENSP00000296755.7:p.Glu1249Gln | |
| ENST00000296755.11:c.3745G>C | ENSP00000296755.7:p.Glu1249Gln | |
| NM_005909.3:c.3745G>C | NP_005900.2:p.Glu1249Gln | |
| XM_005248507.2:c.3367G>C | XP_005248564.1:p.Glu1123Gln | |
| NM_001324255.1:c.3367G>C | NP_001311184.1:p.Glu1123Gln | |
| NM_005909.4:c.3745G>C | NP_005900.2:p.Glu1249Gln | |
| NM_005909.5:c.3745G>C MANE Select | NP_005900.2:p.Glu1249Gln | |
| NM_001324255.2:c.3367G>C | NP_001311184.1:p.Glu1123Gln |