Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47834465G>C , CM000681.2:g.47834465G>C | GRCh38 |
| NC_000019.9:g.48337722G>C , CM000681.1:g.48337722G>C | GRCh37 |
| NC_000019.8:g.53029534G>C | NCBI36 |
| NG_008605.1:g.17624G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000554.6:c.22G>C MANE Select | NP_000545.1:p.Gly8Arg |
| ENST00000221996.12:c.22G>C MANE Select | ENSP00000221996.5:p.Gly8Arg |
| NM_000554.4:c.22G>C | NP_000545.1:p.Gly8Arg |
| NM_000554.5:c.22G>C | NP_000545.1:p.Gly8Arg |
| ENST00000221996.11:c.22G>C | ENSP00000221996.5:p.Gly8Arg |
| ENST00000539067.5:c.22G>C | ENSP00000445565.1:p.Gly8Arg |
| ENST00000556527.1:n.78-1778G>C | |
| ENST00000566686.5:c.22G>C | ENSP00000457808.2:p.Gly8Arg |
| ENST00000613299.1:c.22G>C | ENSP00000478106.1:p.Gly8Arg |