Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8073718C>G , CM000679.2:g.8073718C>G | GRCh38 |
| NC_000017.10:g.7977036C>G , CM000679.1:g.7977036C>G | GRCh37 |
| NC_000017.9:g.7917761C>G | NCBI36 |
| NG_007099.1:g.18986G>C | |
| NG_007099.2:g.18999G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.1694G>C MANE Select | NP_001130.1:p.Arg565Pro |
| ENST00000647874.1:c.1694G>C MANE Select | ENSP00000497784.1:p.Arg565Pro |
| NM_001139.2:c.1694G>C | NP_001130.1:p.Arg565Pro |
| ENST00000319144.4:c.1694G>C | ENSP00000315167.4:p.Arg565Pro |
| ENST00000577351.5:n.480-400G>C | |
| ENST00000649809.1:c.758G>C | ENSP00000496845.1:p.Arg253Pro |
| ENST00000650441.1:n.117G>C |