Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.146554540G>A , CM000668.2:g.146554540G>A | GRCh38 |
| NC_000006.11:g.146875676G>A , CM000668.1:g.146875676G>A | GRCh37 |
| NC_000006.10:g.146917369G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367495.4:c.613G>A MANE Select | ENSP00000356465.3:p.Asp205Asn | |
| ENST00000367495.3:c.613G>A | ENSP00000356465.3:p.Asp205Asn | |
| NM_006834.3:c.613G>A | NP_006825.1:p.Asp205Asn | |
| NM_006834.4:c.613G>A | NP_006825.1:p.Asp205Asn | |
| NM_006834.5:c.613G>A MANE Select | NP_006825.1:p.Asp205Asn |