Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.156971719C>G , CM000666.2:g.156971719C>G | GRCh38 |
| NC_000004.11:g.157892871C>G , CM000666.1:g.157892871C>G | GRCh37 |
| NC_000004.10:g.158112321C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502773.6:c.-816G>C MANE Select | ENSP00000422464.1:n.-816G>C | |
| NM_016205.3:c.-816G>C MANE Select | NP_057289.1:n.-816G>C | |
| NR_036641.2:n.81G>C |