Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23386002T>C , CM000676.2:g.23386002T>C | GRCh38 |
| NC_000014.8:g.23855211T>C , CM000676.1:g.23855211T>C | GRCh37 |
| NC_000014.7:g.22925051T>C | NCBI36 |
| NG_023444.1:g.27276A>G , LRG_389:g.27276A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002471.4:c.5089A>G MANE Select | NP_002462.2:p.Thr1697Ala |
| ENST00000405093.9:c.5089A>G MANE Select | ENSP00000386041.3:p.Thr1697Ala |
| NM_002471.3:c.5089A>G , LRG_389t1:c.5089A>G | NP_002462.2:p.Thr1697Ala |
| ENST00000356287.3:c.5089A>G | ENSP00000348634.3:p.Thr1697Ala |
| ENST00000405093.7:c.5089A>G | ENSP00000386041.3:p.Thr1697Ala |