Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160249250A>G , CM000668.2:g.160249250A>G | GRCh38 |
| NC_000006.11:g.160670282A>G , CM000668.1:g.160670282A>G | GRCh37 |
| NC_000006.10:g.160590272A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003058.4:c.808T>C MANE Select | NP_003049.2:p.Ser270Pro |
| ENST00000366953.8:c.808T>C MANE Select | ENSP00000355920.3:p.Ser270Pro |
| NM_003058.3:c.808T>C | NP_003049.2:p.Ser270Pro |
| ENST00000366952.1:c.745T>C | ENSP00000355919.1:p.Ser249Pro |
| ENST00000366953.7:c.808T>C | ENSP00000355920.3:p.Ser270Pro |
| ENST00000491092.1:n.705T>C |