Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992936C>G , CM000670.2:g.16992936C>G | GRCh38 |
| NC_000008.10:g.16850445C>G , CM000670.1:g.16850445C>G | GRCh37 |
| NC_000008.9:g.16894816C>G | NCBI36 |
| NG_015978.1:g.14230G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*136G>C MANE Select | ENSP00000180166.5:n.*136G>C | |
| ENST00000180166.5:c.*136G>C | ENSP00000180166.5:n.*136G>C | |
| NM_019851.2:c.*136G>C | NP_062825.1:n.*136G>C | |
| NM_019851.3:c.*136G>C MANE Select | NP_062825.1:n.*136G>C |