Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59359211T>G , CM000680.2:g.59359211T>G | GRCh38 |
| NC_000018.9:g.57026443T>G , CM000680.1:g.57026443T>G | GRCh37 |
| NC_000018.8:g.55177423T>G | NCBI36 |
| NG_012097.1:g.5066A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251047.6:c.34A>C MANE Select | ENSP00000251047.4:p.Arg12= | |
| ENST00000251047.5:c.34A>C | ENSP00000251047.4:p.Arg12= | |
| ENST00000587561.1:n.55A>C | ||
| NM_005570.3:c.34A>C | NP_005561.1:p.Arg12= | |
| NM_005570.4:c.34A>C MANE Select | NP_005561.1:p.Arg12= |