Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767964A>C , CM000676.2:g.28767964A>C | GRCh38 |
| NC_000014.8:g.29237170A>C , CM000676.1:g.29237170A>C | GRCh37 |
| NC_000014.7:g.28306921A>C | NCBI36 |
| NG_009367.1:g.5884A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.685A>C | ENSP00000516406.1:p.Ile229Leu | |
| ENST00000313071.7:c.685A>C MANE Select | ENSP00000339004.3:p.Ile229Leu | |
| ENST00000313071.6:c.685A>C | ENSP00000339004.3:p.Ile229Leu | |
| NM_005249.4:c.685A>C | NP_005240.3:p.Ile229Leu | |
| NM_005249.5:c.685A>C MANE Select | NP_005240.3:p.Ile229Leu |