Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154993133T= , CM000685.2:g.154993133T= | GRCh38 |
| NC_000023.10:g.154221408T= , CM000685.1:g.154221408T= | GRCh37 |
| NC_000023.9:g.153874602T= | NCBI36 |
| NG_011403.1:g.34591A= | |
| NG_011403.2:g.34591A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.404A= MANE Select | ENSP00000353393.4:p.Asp135= | |
| ENST00000647125.1:c.*190A= | ENSP00000496062.1:n.*190A= | |
| ENST00000360256.8:c.404A= | ENSP00000353393.4:p.Asp135= | |
| ENST00000423959.5:c.299A= | ENSP00000409446.1:p.Asp100= | |
| ENST00000453950.1:c.386A= | ENSP00000389153.1:p.Asp129= | |
| NM_000132.3:c.404A= | NP_000123.1:p.Asp135= | |
| XM_011531126.1:c.299A= | XP_011529428.1:p.Asp100= | |
| NM_000132.4:c.404A= MANE Select | NP_000123.1:p.Asp135= |