Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19922710T>C , CM000663.2:g.19922710T>C | GRCh38 |
| NC_000001.10:g.20249203T>C , CM000663.1:g.20249203T>C | GRCh37 |
| NC_000001.9:g.20121790T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014589.3:c.86A>G MANE Select | NP_055404.1:p.Glu29Gly |
| ENST00000375116.3:c.86A>G MANE Select | ENSP00000364257.3:p.Glu29Gly |
| NM_014589.2:c.86A>G | NP_055404.1:p.Glu29Gly |