Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.65057624A= , CM000668.2:g.65057624A= | GRCh38 |
| NC_000006.11:g.65767517A= , CM000668.1:g.65767517A= | GRCh37 |
| NC_000006.10:g.65824238A= | NCBI36 |
| NG_023443.1:g.654602T= | |
| NG_023443.2:g.654602T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000503581.6:c.2127T= MANE Select | ENSP00000424243.1:p.Pro709= | |
| ENST00000370616.6:c.2127T= | ENSP00000359650.2:p.Pro709= | |
| ENST00000370618.7:c.2127T= | ENSP00000359652.4:p.Pro709= | |
| ENST00000370621.7:c.2127T= | ENSP00000359655.3:p.Pro709= | |
| ENST00000503581.5:c.2127T= | ENSP00000424243.1:p.Pro709= | |
| NM_001142800.1:c.2127T= | NP_001136272.1:p.Pro709= | |
| NM_001292009.1:c.2127T= | NP_001278938.1:p.Pro709= | |
| NM_001142800.2:c.2127T= MANE Select | NP_001136272.1:p.Pro709= | |
| NM_001292009.2:c.2127T= | NP_001278938.1:p.Pro709= |