Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154953924T= , CM000685.2:g.154953924T= | GRCh38 |
| NC_000023.10:g.154182199T= , CM000685.1:g.154182199T= | GRCh37 |
| NC_000023.9:g.153835393T= | NCBI36 |
| NG_011403.1:g.73800A= | |
| NG_011403.2:g.73800A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1871A= MANE Select | ENSP00000353393.4:p.Asp624= | |
| ENST00000647125.1:c.*1747A= | ENSP00000496062.1:n.*1747A= | |
| ENST00000360256.8:c.1871A= | ENSP00000353393.4:p.Asp624= | |
| NM_000132.3:c.1871A= | NP_000123.1:p.Asp624= | |
| XM_011531126.1:c.1766A= | XP_011529428.1:p.Asp589= | |
| NM_000132.4:c.1871A= MANE Select | NP_000123.1:p.Asp624= |