Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60648817C>T , CM000676.2:g.60648817C>T | GRCh38 |
| NC_000014.8:g.61115535C>T , CM000676.1:g.61115535C>T | GRCh37 |
| NC_000014.7:g.60185288C>T | NCBI36 |
| NG_008231.1:g.5621G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645694.3:c.373G>A MANE Select | ENSP00000494686.1:p.Glu125Lys | |
| ENST00000247182.6:c.373G>A | ENSP00000247182.5:p.Glu125Lys | |
| ENST00000553535.2:n.249-2240G>A | ||
| ENST00000554986.2:c.42-2240G>A | ENSP00000452700.2:n.42-2240G>A | |
| ENST00000555955.3:n.1198-2240G>A | ||
| NM_005982.3:c.373G>A | NP_005973.1:p.Glu125Lys | |
| XM_017021602.2:c.373G>A | XP_016877091.1:p.Glu125Lys | |
| NM_005982.4:c.373G>A MANE Select | NP_005973.1:p.Glu125Lys |