Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154954031G= , CM000685.2:g.154954031G= | GRCh38 |
| NC_000023.10:g.154182306G= , CM000685.1:g.154182306G= | GRCh37 |
| NC_000023.9:g.153835500G= | NCBI36 |
| NG_011403.1:g.73693C= | |
| NG_011403.2:g.73693C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1764C= MANE Select | ENSP00000353393.4:p.Asp588= | |
| ENST00000647125.1:c.*1640C= | ENSP00000496062.1:n.*1640C= | |
| ENST00000360256.8:c.1764C= | ENSP00000353393.4:p.Asp588= | |
| NM_000132.3:c.1764C= | NP_000123.1:p.Asp588= | |
| XM_011531126.1:c.1659C= | XP_011529428.1:p.Asp553= | |
| NM_000132.4:c.1764C= MANE Select | NP_000123.1:p.Asp588= |