Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965792C>T , CM000670.2:g.37965792C>T | GRCh38 |
| NC_000008.10:g.37823310C>T , CM000670.1:g.37823310C>T | GRCh37 |
| NC_000008.9:g.37942467C>T | NCBI36 |
| NG_011936.1:g.5875G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.678G>A MANE Select | ENSP00000343782.3:p.Arg226= | |
| ENST00000520341.2:n.806G>A | ||
| ENST00000647937.1:c.162G>A | ENSP00000497740.1:p.Arg54= | |
| ENST00000345060.4:c.678G>A | ENSP00000343782.3:p.Arg226= | |
| ENST00000614635.1:c.678G>A | ENSP00000480325.1:p.Arg226= | |
| NM_000025.2:c.678G>A | NP_000016.1:p.Arg226= | |
| NM_000025.3:c.678G>A MANE Select | NP_000016.1:p.Arg226= |