Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59359131C>T , CM000680.2:g.59359131C>T | GRCh38 |
| NC_000018.9:g.57026363C>T , CM000680.1:g.57026363C>T | GRCh37 |
| NC_000018.8:g.55177343C>T | NCBI36 |
| NG_012097.1:g.5146G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251047.6:c.114G>A MANE Select | ENSP00000251047.4:p.Ala38= | |
| ENST00000251047.5:c.114G>A | ENSP00000251047.4:p.Ala38= | |
| ENST00000587561.1:n.135G>A | ||
| NM_005570.3:c.114G>A | NP_005561.1:p.Ala38= | |
| NM_005570.4:c.114G>A MANE Select | NP_005561.1:p.Ala38= |