Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18783128C>G , CM000681.2:g.18783128C>G | GRCh38 |
| NC_000019.9:g.18893938C>G , CM000681.1:g.18893938C>G | GRCh37 |
| NC_000019.8:g.18754938C>G | NCBI36 |
| NG_007070.1:g.13177G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222271.7:c.2153G>C MANE Select | ENSP00000222271.2:p.Arg718Pro | |
| ENST00000222271.6:c.2153G>C | ENSP00000222271.2:p.Arg718Pro | |
| ENST00000425807.1:c.1994G>C | ENSP00000403792.1:p.Arg665Pro | |
| ENST00000542601.6:c.2054G>C | ENSP00000439156.2:p.Arg685Pro | |
| NM_000095.2:c.2153G>C | NP_000086.2:p.Arg718Pro | |
| NM_000095.3:c.2153G>C MANE Select | NP_000086.2:p.Arg718Pro |