Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129753222G>A , CM000685.2:g.129753222G>A | GRCh38 |
| NC_000023.10:g.128887198G>A , CM000685.1:g.128887198G>A | GRCh37 |
| NC_000023.9:g.128714879G>A | NCBI36 |
| NG_011479.1:g.19253G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003399.6:c.1081G>A MANE Select | NP_003390.4:p.Glu361Lys |
| ENST00000371106.4:c.1081G>A MANE Select | ENSP00000360147.3:p.Glu361Lys |
| NM_003399.5:c.1081G>A | NP_003390.4:p.Glu361Lys |
| ENST00000371106.3:c.1081G>A | ENSP00000360147.3:p.Glu361Lys |