Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89218971G>C , CM000677.2:g.89218971G>C | GRCh38 |
| NC_000015.9:g.89762202G>C , CM000677.1:g.89762202G>C | GRCh37 |
| NC_000015.8:g.87563206G>C | NCBI36 |
| NG_008116.1:g.7721C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000326.5:c.5C>G MANE Select | NP_000317.1:p.Ser2Ter |
| ENST00000268125.10:c.5C>G MANE Select | ENSP00000268125.5:p.Ser2Ter |
| NM_000326.4:c.5C>G | NP_000317.1:p.Ser2Ter |
| ENST00000268125.9:c.5C>G | ENSP00000268125.5:p.Ser2Ter |
| ENST00000567787.1:c.5C>G | ENSP00000457251.1:p.Ser2Ter |
| XM_011521870.1:c.5C>G | XP_011520172.1:p.Ser2Ter |
| XM_011521870.2:c.5C>G | XP_011520172.1:p.Ser2Ter |