Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5952393C>G , CM000674.2:g.5952393C>G | GRCh38 |
| NC_000012.11:g.6061559C>G , CM000674.1:g.6061559C>G | GRCh37 |
| NC_000012.10:g.5931820C>G | NCBI36 |
| NG_009072.1:g.177278G>C | |
| NG_009072.2:g.177278G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.8113G>C MANE Select | NP_000543.3:p.Gly2705Arg |
| ENST00000261405.10:c.8113G>C MANE Select | ENSP00000261405.5:p.Gly2705Arg |
| NM_000552.3:c.8113G>C | NP_000543.2:p.Gly2705Arg |
| NM_000552.4:c.8113G>C | NP_000543.2:p.Gly2705Arg |
| ENST00000261405.9:c.8113G>C | ENSP00000261405.5:p.Gly2705Arg |
| ENST00000612016.1:n.522G>C | |
| ENST00000621700.1:n.431G>C |