Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001328T>C , CM000683.2:g.46001328T>C | GRCh38 |
| NC_000021.8:g.47421242T>C , CM000683.1:g.47421242T>C | GRCh37 |
| NC_000021.7:g.46245670T>C | NCBI36 |
| NG_008674.1:g.24580T>C , LRG_475:g.24580T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.1898T>C MANE Select | NP_001839.2:p.Ile633Thr |
| ENST00000361866.8:c.1898T>C MANE Select | ENSP00000355180.3:p.Ile633Thr |
| NM_001848.2:c.1898T>C , LRG_475t1:c.1898T>C | NP_001839.2:p.Ile633Thr |
| ENST00000361866.7:c.1898T>C | ENSP00000355180.3:p.Ile633Thr |
| ENST00000463060.5:n.297T>C | |
| ENST00000463060.6:n.297T>C | |
| ENST00000498614.5:n.132T>C | |
| ENST00000612273.1:c.1892T>C | ENSP00000483630.1:p.Ile631Thr |
| ENST00000612273.2:c.24T>C | |
| ENST00000682634.1:c.24T>C |