Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73199918C>A , CM000679.2:g.73199918C>A | GRCh38 |
| NC_000017.10:g.71196057C>A , CM000679.1:g.71196057C>A | GRCh37 |
| NC_000017.9:g.68707652C>A | NCBI36 |
| NG_008971.1:g.11885C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299886.9:c.967C>A MANE Select | ENSP00000299886.4:p.His323Asn | |
| ENST00000299886.8:c.967C>A | ENSP00000299886.4:p.His323Asn | |
| ENST00000438720.7:c.965C>A | ||
| ENST00000618996.4:c.967C>A | ENSP00000479450.1:p.His323Asn | |
| NM_018714.2:c.967C>A | NP_061184.1:p.His323Asn | |
| NM_018714.3:c.967C>A MANE Select | NP_061184.1:p.His323Asn |