Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59835817G>C , CM000673.2:g.59835817G>C | GRCh38 |
| NC_000011.9:g.59603290G>C , CM000673.1:g.59603290G>C | GRCh37 |
| NC_000011.8:g.59359866G>C | NCBI36 |
| NG_008120.1:g.14685C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257248.3:c.1064C>G MANE Select | ENSP00000257248.2:p.Pro355Arg | |
| ENST00000257248.2:c.1064C>G | ENSP00000257248.2:p.Pro355Arg | |
| ENST00000525058.5:c.*1031C>G | ENSP00000433196.1:n.*1031C>G | |
| ENST00000533067.1:n.111C>G | ||
| ENST00000533847.1:n.716C>G | ||
| NM_005142.2:c.1064C>G | NP_005133.2:p.Pro355Arg | |
| XM_011544939.1:c.1022C>G | XP_011543241.1:p.Pro341Arg | |
| XM_011544939.3:c.1022C>G | XP_011543241.1:p.Pro341Arg | |
| NM_005142.3:c.1064C>G MANE Select | NP_005133.2:p.Pro355Arg |