Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48873985G>C , CM000681.2:g.48873985G>C | GRCh38 |
| NC_000019.9:g.49377242G>C , CM000681.1:g.49377242G>C | GRCh37 |
| NC_000019.8:g.54069054G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014330.5:c.752G>C MANE Select | NP_055145.3:p.Arg251Pro |
| ENST00000200453.6:c.752G>C MANE Select | ENSP00000200453.4:p.Arg251Pro |
| NM_014330.3:c.752G>C | NP_055145.3:p.Arg251Pro |
| ENST00000200453.5:c.752G>C | ENSP00000200453.4:p.Arg251Pro |
| ENST00000600406.2:c.752G>C | ENSP00000469239.2:p.Arg251Pro |
| ENST00000704025.1:n.514G>C | |
| ENST00000704026.1:c.467G>C | ENSP00000515636.1:p.Arg156Pro |
| ENST00000704027.1:c.800G>C | ENSP00000515637.1:p.Arg267Pro |