Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130862870G>A , CM000671.2:g.130862870G>A | GRCh38 |
| NC_000009.11:g.133738257G>A , CM000671.1:g.133738257G>A | GRCh37 |
| NC_000009.10:g.132728078G>A | NCBI36 |
| NG_012034.1:g.153990G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.714G>A | ENSP00000361423.2:p.Lys238= | |
| ENST00000318560.6:c.657G>A MANE Select | ENSP00000323315.5:p.Lys219= | |
| ENST00000372348.7:c.714G>A | ENSP00000361423.2:p.Lys238= | |
| ENST00000318560.5:c.657G>A | ENSP00000323315.5:p.Lys219= | |
| ENST00000372348.6:c.714G>A | ENSP00000361423.2:p.Lys238= | |
| NM_005157.5:c.657G>A | NP_005148.2:p.Lys219= | |
| NM_007313.2:c.714G>A | NP_009297.2:p.Lys238= | |
| NM_005157.6:c.657G>A MANE Select | NP_005148.2:p.Lys219= | |
| NM_007313.3:c.714G>A | NP_009297.2:p.Lys238= |