Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845343C= , CM000678.2:g.28845343C= | GRCh38 |
| NC_000016.9:g.28856664C= , CM000678.1:g.28856664C= | GRCh37 |
| NC_000016.8:g.28764165C= | NCBI36 |
| NG_008964.1:g.6066G= | |
| NG_029706.2:g.3744C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.385G= MANE Select | ENSP00000322439.3:p.Asp129= | |
| ENST00000313511.7:c.385G= | ENSP00000322439.3:p.Asp129= | |
| ENST00000565012.1:c.248-288G= | ENSP00000455007.1:n.248-288G= | |
| NM_003321.4:c.385G= | NP_003312.3:p.Asp129= | |
| XM_011545928.1:c.385G= | XP_011544230.1:p.Asp129= | |
| NM_001365360.1:c.385G= | NP_001352289.1:p.Asp129= | |
| NM_003321.5:c.385G= MANE Select | NP_003312.3:p.Asp129= | |
| NM_001365360.2:c.385G= | NP_001352289.1:p.Asp129= |