Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719665G>C , CM000678.2:g.88719665G>C | GRCh38 |
| NC_000016.9:g.88786073G>C , CM000678.1:g.88786073G>C | GRCh37 |
| NC_000016.8:g.87313574G>C | NCBI36 |
| NG_042229.1:g.70556C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001142864.4:c.6380C>G MANE Select | NP_001136336.2:p.Thr2127Arg |
| ENST00000301015.14:c.6380C>G MANE Select | ENSP00000301015.9:p.Thr2127Arg |
| NM_001142864.2:c.6380C>G | NP_001136336.2:p.Thr2127Arg |
| NM_001142864.3:c.6380C>G | NP_001136336.2:p.Thr2127Arg |
| ENST00000301015.13:c.6380C>G | ENSP00000301015.9:p.Thr2127Arg |
| ENST00000419505.5:c.146C>G | ENSP00000406358.1:p.Thr49Arg |
| ENST00000466823.2:c.406C>G | |
| ENST00000466823.3:c.406C>G | |
| ENST00000495568.7:n.621C>G | |
| ENST00000497793.2:n.535C>G |