Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951924G>C , CM000670.2:g.19951924G>C | GRCh38 |
| NC_000008.10:g.19809435G>C , CM000670.1:g.19809435G>C | GRCh37 |
| NC_000008.9:g.19853715G>C | NCBI36 |
| NG_008855.1:g.17854G>C | |
| NG_008855.2:g.55208G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.405G>C MANE Select | NP_000228.1:p.Val135= |
| ENST00000650287.1:c.405G>C MANE Select | ENSP00000497642.1:p.Val135= |
| NM_000237.2:c.405G>C | NP_000228.1:p.Val135= |
| ENST00000311322.8:c.405G>C | ENSP00000309757.6:p.Val135= |
| ENST00000520959.5:c.177G>C | ENSP00000428496.1:p.Val59= |