Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23432498T>G , CM000676.2:g.23432498T>G | GRCh38 |
| NC_000014.8:g.23901707T>G , CM000676.1:g.23901707T>G | GRCh37 |
| NC_000014.7:g.22971547T>G | NCBI36 |
| NG_007884.1:g.8164A>C , LRG_384:g.8164A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.511A>C MANE Select | NP_000248.2:p.Asn171His |
| ENST00000355349.4:c.511A>C MANE Select | ENSP00000347507.3:p.Asn171His |
| NM_000257.3:c.511A>C | NP_000248.2:p.Asn171His |
| ENST00000355349.3:c.511A>C | ENSP00000347507.3:p.Asn171His |
| XM_017021340.1:c.511A>C | XP_016876829.1:p.Asn171His |
| XR_245686.3:n.617A>C |