Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101251306C>G , CM000677.2:g.101251306C>G | GRCh38 |
| NC_000015.9:g.101791511C>G , CM000677.1:g.101791511C>G | GRCh37 |
| NC_000015.8:g.99609034C>G | NCBI36 |
| NG_031908.1:g.5627G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014918.5:c.151G>C MANE Select | NP_055733.2:p.Gly51Arg |
| ENST00000254190.4:c.151G>C MANE Select | ENSP00000254190.3:p.Gly51Arg |
| NM_014918.4:c.151G>C | NP_055733.2:p.Gly51Arg |
| ENST00000254190.3:c.151G>C | ENSP00000254190.3:p.Gly51Arg |
| XM_011521364.1:c.151G>C | XP_011519666.1:p.Gly51Arg |
| XM_011521364.2:c.151G>C | XP_011519666.1:p.Gly51Arg |