Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993026A>G , CM000670.2:g.16993026A>G | GRCh38 |
| NC_000008.10:g.16850535A>G , CM000670.1:g.16850535A>G | GRCh37 |
| NC_000008.9:g.16894906A>G | NCBI36 |
| NG_015978.1:g.14140T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*46T>C MANE Select | ENSP00000180166.5:n.*46T>C | |
| ENST00000180166.5:c.*46T>C | ENSP00000180166.5:n.*46T>C | |
| ENST00000519941.1:c.386T>C | ||
| NM_019851.2:c.*46T>C | NP_062825.1:n.*46T>C | |
| NM_019851.3:c.*46T>C MANE Select | NP_062825.1:n.*46T>C |