Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55222336A>G , CM000667.2:g.55222336A>G | GRCh38 |
| NC_000005.9:g.54518164A>G , CM000667.1:g.54518164A>G | GRCh37 |
| NC_000005.8:g.54553921A>G | NCBI36 |
| NG_051620.1:g.9980T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001190787.3:c.446T>C MANE Select | NP_001177716.1:p.Ile149Thr |
| ENST00000513312.3:c.446T>C MANE Select | ENSP00000426359.1:p.Ile149Thr |
| NM_001190787.1:c.446T>C | NP_001177716.1:p.Ile149Thr |
| ENST00000513312.1:c.446T>C | ENSP00000426359.1:p.Ile149Thr |
| ENST00000513468.5:c.450T>C | ENSP00000422165.1:p.His150= |
| ENST00000515336.1:n.383T>C | |
| XM_017009439.2:c.53T>C | XP_016864928.1:p.Ile18Thr |