Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.77055574T>C , CM000667.2:g.77055574T>C | GRCh38 |
| NC_000005.9:g.76351399T>C , CM000667.1:g.76351399T>C | GRCh37 |
| NC_000005.8:g.76387155T>C | NCBI36 |
| NG_027822.1:g.30190T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018046.5:c.1694T>C MANE Select | NP_060516.2:p.Ile565Thr |
| ENST00000312916.12:c.1694T>C MANE Select | ENSP00000316109.7:p.Ile565Thr |
| NM_018046.4:c.1694T>C | NP_060516.2:p.Ile565Thr |
| ENST00000312916.11:c.1694T>C | ENSP00000316109.7:p.Ile565Thr |
| ENST00000646704.1:c.1559T>C | ENSP00000495089.1:p.Ile520Thr |