Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6645337G>C , CM000671.2:g.6645337G>C | GRCh38 |
| NC_000009.11:g.6645337G>C , CM000671.1:g.6645337G>C | GRCh37 |
| NC_000009.10:g.6635337G>C | NCBI36 |
| NG_016397.1:g.5356C>G , LRG_643:g.5356C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.163C>G MANE Select | NP_000161.2:p.Arg55Gly |
| ENST00000321612.8:c.163C>G MANE Select | ENSP00000370737.4:p.Arg55Gly |
| NM_000170.2:c.163C>G , LRG_643t1:c.163C>G | NP_000161.2:p.Arg55Gly |
| ENST00000321612.6:c.163C>G | ENSP00000370737.3:p.Arg55Gly |
| XM_024447726.1:c.348G>C | XP_024303494.1:p.Ala116= |