Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10652554G= , CM000682.2:g.10652554G= | GRCh38 |
| NC_000020.10:g.10633202G= , CM000682.1:g.10633202G= | GRCh37 |
| NC_000020.9:g.10581202G= | NCBI36 |
| NG_007496.1:g.26493C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.800C= MANE Select | ENSP00000254958.4:p.Pro267= | |
| ENST00000617965.2:n.169C= | ||
| ENST00000254958.9:c.800C= | ENSP00000254958.4:p.Pro267= | |
| ENST00000423891.6:n.666C= | ||
| ENST00000617965.1:n.169C= | ||
| NM_000214.2:c.800C= | NP_000205.1:p.Pro267= | |
| NM_000214.3:c.800C= MANE Select | NP_000205.1:p.Pro267= |