Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20141094C>G , CM000669.2:g.20141094C>G | GRCh38 |
| NC_000007.13:g.20180717C>G , CM000669.1:g.20180717C>G | GRCh37 |
| NC_000007.12:g.20147242C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_182762.4:c.2411G>C MANE Select | NP_877439.3:p.Arg804Thr |
| ENST00000400331.10:c.2411G>C MANE Select | ENSP00000383185.3:p.Arg804Thr |
| NM_182762.3:c.2411G>C | NP_877439.3:p.Arg804Thr |
| ENST00000332878.8:c.2411G>C | ENSP00000328410.4:p.Arg804Thr |
| ENST00000400331.9:c.2411G>C | ENSP00000383185.3:p.Arg804Thr |
| ENST00000589011.1:c.2411G>C | ENSP00000466864.1:p.Arg804Thr |