Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206110067C>A , CM000663.2:g.206110067C>A | GRCh38 |
| NC_000001.10:g.206231264G>T , CM000663.1:g.206231264G>T | GRCh37 |
| NC_000001.9:g.204397887G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367126.5:c.*122G>T MANE Select | ENSP00000356094.4:n.*122G>T | |
| ENST00000367126.4:c.*122G>T | ENSP00000356094.4:n.*122G>T | |
| ENST00000612906.1:n.493G>T | ||
| NM_000707.3:c.*122G>T | NP_000698.1:n.*122G>T | |
| NM_000707.4:c.*122G>T | NP_000698.1:n.*122G>T | |
| NM_000707.5:c.*122G>T MANE Select | NP_000698.1:n.*122G>T |