Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124952878G>T , CM000671.2:g.124952878G>T | GRCh38 |
| NC_000009.11:g.127715157G>T , CM000671.1:g.127715157G>T | GRCh37 |
| NC_000009.10:g.126754978G>T | NCBI36 |
| NG_016620.1:g.195682C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001144877.3:c.1750C>A MANE Select | NP_001138349.1:p.His584Asn |
| ENST00000336505.11:c.1750C>A MANE Select | ENSP00000336756.6:p.His584Asn |
| NM_001144877.2:c.1750C>A | NP_001138349.1:p.His584Asn |
| NM_173690.4:c.1819C>A | NP_775961.2:p.His607Asn |
| NM_173690.5:c.1819C>A | NP_775961.2:p.His607Asn |
| ENST00000336505.10:c.1750C>A | ENSP00000336756.5:p.His584Asn |
| ENST00000373549.8:c.1819C>A | ENSP00000362650.4:p.His607Asn |
| ENST00000467917.5:c.682C>A | |
| ENST00000477186.5:c.*195C>A | ENSP00000419576.1:n.*195C>A |
| XR_929767.1:n.2021C>A |