Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.920708G>C , CM000681.2:g.920708G>C | GRCh38 |
| NC_000019.9:g.920708G>C , CM000681.1:g.920708G>C | GRCh37 |
| NC_000019.8:g.871708G>C | NCBI36 |
| NG_008277.1:g.8367G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032551.5:c.1157G>C MANE Select | NP_115940.2:p.Arg386Pro |
| ENST00000234371.10:c.1157G>C MANE Select | ENSP00000234371.3:p.Arg386Pro |
| NM_032551.4:c.1157G>C | NP_115940.2:p.Arg386Pro |
| ENST00000234371.9:c.1157G>C | ENSP00000234371.3:p.Arg386Pro |
| ENST00000606939.2:c.924G>C | ENSP00000475639.1:n.924G>C |