Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648823A>G , CM000669.2:g.152648823A>G | GRCh38 |
| NC_000007.13:g.152345908A>G , CM000669.1:g.152345908A>G | GRCh37 |
| NC_000007.12:g.151976841A>G | NCBI36 |
| NG_027988.1:g.32343T>C | |
| NG_027988.2:g.32343T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005431.2:c.662T>C MANE Select | NP_005422.1:p.Ile221Thr |
| ENST00000359321.2:c.662T>C MANE Select | ENSP00000352271.1:p.Ile221Thr |
| NM_005431.1:c.662T>C | NP_005422.1:p.Ile221Thr |
| ENST00000359321.1:c.662T>C | ENSP00000352271.1:p.Ile221Thr |
| ENST00000495707.1:n.684T>C | |
| ENST00000698506.1:c.494T>C | ENSP00000513758.1:p.Ile165Thr |