Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674800A>G , CM000671.2:g.136674800A>G | GRCh38 |
| NC_000009.11:g.139569252A>G , CM000671.1:g.139569252A>G | GRCh37 |
| NC_000009.10:g.138689073A>G | NCBI36 |
| NG_008090.1:g.17660T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.596T>C MANE Select | ENSP00000360761.2:p.Ile199Thr | |
| ENST00000371694.7:c.500T>C | ENSP00000360759.3:p.Ile167Thr | |
| ENST00000371696.6:c.596T>C | ENSP00000360761.2:p.Ile199Thr | |
| ENST00000472820.1:n.524T>C | ||
| ENST00000538402.1:c.596T>C | ENSP00000438919.1:p.Ile199Thr | |
| NM_001012727.1:c.500T>C | NP_001012745.1:p.Ile167Thr | |
| NM_006412.3:c.596T>C | NP_006403.2:p.Ile199Thr | |
| NM_006412.4:c.596T>C MANE Select | NP_006403.2:p.Ile199Thr | |
| NM_001012727.2:c.500T>C | NP_001012745.1:p.Ile167Thr |