Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135920591G>C , CM000664.2:g.135920591G>C | GRCh38 |
| NC_000002.11:g.136678161G>C , CM000664.1:g.136678161G>C | GRCh37 |
| NC_000002.10:g.136394631G>C | NCBI36 |
| NG_034149.1:g.70094C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001349.4:c.821C>G MANE Select | NP_001340.2:p.Ala274Gly |
| ENST00000264161.9:c.821C>G MANE Select | ENSP00000264161.4:p.Ala274Gly |
| NM_001293312.1:c.521C>G | NP_001280241.1:p.Ala174Gly |
| NM_001349.3:c.821C>G | NP_001340.2:p.Ala274Gly |
| ENST00000264161.8:c.821C>G | ENSP00000264161.4:p.Ala274Gly |