Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.21706706G= , CM000682.2:g.21706706G= | GRCh38 |
| NC_000020.10:g.21687344G= , CM000682.1:g.21687344G= | GRCh37 |
| NC_000020.9:g.21635344G= | NCBI36 |
| NG_047065.1:g.6048G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001257096.2:c.555G= MANE Select | NP_001244025.1:p.Lys185= |
| ENST00000613128.5:c.555G= MANE Select | ENSP00000481334.1:p.Lys185= |
| NM_001257096.1:c.555G= | NP_001244025.1:p.Lys185= |
| NM_006192.4:c.555G= | NP_006183.2:p.Lys185= |
| NM_006192.5:c.555G= | NP_006183.2:p.Lys185= |
| ENST00000398485.6:c.555G= | ENSP00000381499.2:p.Lys185= |
| ENST00000444366.2:c.483G= | ENSP00000410355.2:p.Lys161= |
| ENST00000460221.1:n.57-175G= | |
| ENST00000613128.4:c.555G= | ENSP00000481334.1:p.Lys185= |