Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.125018822T>C , CM000671.2:g.125018822T>C | GRCh38 |
| NC_000009.11:g.127781101T>C , CM000671.1:g.127781101T>C | GRCh37 |
| NC_000009.10:g.126820922T>C | NCBI36 |
| NG_016620.1:g.129738A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001144877.3:c.838A>G MANE Select | NP_001138349.1:p.Ile280Val |
| ENST00000336505.11:c.838A>G MANE Select | ENSP00000336756.6:p.Ile280Val |
| NM_001144877.2:c.838A>G | NP_001138349.1:p.Ile280Val |
| NM_173690.4:c.907A>G | NP_775961.2:p.Ile303Val |
| NM_173690.5:c.907A>G | NP_775961.2:p.Ile303Val |
| ENST00000336505.10:c.838A>G | ENSP00000336756.5:p.Ile280Val |
| ENST00000373549.8:c.907A>G | ENSP00000362650.4:p.Ile303Val |
| ENST00000477186.5:c.838A>G | ENSP00000419576.1:p.Ile280Val |
| XR_929767.1:n.966A>G | |
| XR_929768.1:n.966A>G |