Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768557G>C , CM000676.2:g.28768557G>C | GRCh38 |
| NC_000014.8:g.29237763G>C , CM000676.1:g.29237763G>C | GRCh37 |
| NC_000014.7:g.28307514G>C | NCBI36 |
| NG_009367.1:g.6477G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005249.5:c.1278G>C MANE Select | NP_005240.3:p.Met426Ile |
| ENST00000313071.7:c.1278G>C MANE Select | ENSP00000339004.3:p.Met426Ile |
| NM_005249.4:c.1278G>C | NP_005240.3:p.Met426Ile |
| ENST00000313071.6:c.1278G>C | ENSP00000339004.3:p.Met426Ile |
| ENST00000706482.1:c.1278G>C | ENSP00000516406.1:p.Met426Ile |