Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992732A>G , CM000670.2:g.16992732A>G | GRCh38 |
| NC_000008.10:g.16850241A>G , CM000670.1:g.16850241A>G | GRCh37 |
| NC_000008.9:g.16894612A>G | NCBI36 |
| NG_015978.1:g.14434T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*340T>C MANE Select | ENSP00000180166.5:n.*340T>C | |
| ENST00000180166.5:c.*340T>C | ENSP00000180166.5:n.*340T>C | |
| NM_019851.3:c.*340T>C MANE Select | NP_062825.1:n.*340T>C |