Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648768C>T , CM000669.2:g.152648768C>T | GRCh38 |
| NC_000007.13:g.152345853C>T , CM000669.1:g.152345853C>T | GRCh37 |
| NC_000007.12:g.151976786C>T | NCBI36 |
| NG_027988.1:g.32398G>A | |
| NG_027988.2:g.32398G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.549G>A | ENSP00000513758.1:p.Met183Ile | |
| ENST00000359321.2:c.717G>A MANE Select | ENSP00000352271.1:p.Met239Ile | |
| ENST00000359321.1:c.717G>A | ENSP00000352271.1:p.Met239Ile | |
| ENST00000495707.1:n.739G>A | ||
| NM_005431.1:c.717G>A | NP_005422.1:p.Met239Ile | |
| NM_005431.2:c.717G>A MANE Select | NP_005422.1:p.Met239Ile |