Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845446C>G , CM000678.2:g.28845446C>G | GRCh38 |
| NC_000016.9:g.28856767C>G , CM000678.1:g.28856767C>G | GRCh37 |
| NC_000016.8:g.28764268C>G | NCBI36 |
| NG_008964.1:g.5963G>C | |
| NG_029706.2:g.3847C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.282G>C MANE Select | ENSP00000322439.3:p.Lys94Asn | |
| ENST00000313511.7:c.282G>C | ENSP00000322439.3:p.Lys94Asn | |
| ENST00000565012.1:c.248-391G>C | ENSP00000455007.1:n.248-391G>C | |
| NM_003321.4:c.282G>C | NP_003312.3:p.Lys94Asn | |
| XM_011545928.1:c.282G>C | XP_011544230.1:p.Lys94Asn | |
| NM_001365360.1:c.282G>C | NP_001352289.1:p.Lys94Asn | |
| NM_003321.5:c.282G>C MANE Select | NP_003312.3:p.Lys94Asn | |
| NM_001365360.2:c.282G>C | NP_001352289.1:p.Lys94Asn |