Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28844981C>G , CM000678.2:g.28844981C>G | GRCh38 |
| NC_000016.9:g.28856302C>G , CM000678.1:g.28856302C>G | GRCh37 |
| NC_000016.8:g.28763803C>G | NCBI36 |
| NG_008964.1:g.6428G>C | |
| NG_029706.2:g.3382C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.489G>C MANE Select | ENSP00000322439.3:p.Gln163His | |
| ENST00000313511.7:c.489G>C | ENSP00000322439.3:p.Gln163His | |
| ENST00000561644.1:n.27G>C | ||
| ENST00000565012.1:c.*16G>C | ENSP00000455007.1:n.*16G>C | |
| NM_003321.4:c.489G>C | NP_003312.3:p.Gln163His | |
| XM_011545928.1:c.489G>C | XP_011544230.1:p.Gln163His | |
| NM_001365360.1:c.489G>C | NP_001352289.1:p.Gln163His | |
| NM_003321.5:c.489G>C MANE Select | NP_003312.3:p.Gln163His | |
| NM_001365360.2:c.489G>C | NP_001352289.1:p.Gln163His |