Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10652548G>A , CM000682.2:g.10652548G>A | GRCh38 |
| NC_000020.10:g.10633196G>A , CM000682.1:g.10633196G>A | GRCh37 |
| NC_000020.9:g.10581196G>A | NCBI36 |
| NG_007496.1:g.26499C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.806C>T MANE Select | ENSP00000254958.4:p.Pro269Leu | |
| ENST00000617965.2:n.175C>T | ||
| ENST00000254958.9:c.806C>T | ENSP00000254958.4:p.Pro269Leu | |
| ENST00000423891.6:n.672C>T | ||
| ENST00000617965.1:n.175C>T | ||
| NM_000214.2:c.806C>T | NP_000205.1:p.Pro269Leu | |
| NM_000214.3:c.806C>T MANE Select | NP_000205.1:p.Pro269Leu |