Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83367812C>A , CM000669.2:g.83367812C>A | GRCh38 |
| NC_000007.13:g.82997128C>A , CM000669.1:g.82997128C>A | GRCh37 |
| NC_000007.12:g.82835064C>A | NCBI36 |
| NG_021242.1:g.286352G>T | |
| NG_021242.2:g.286352G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.1922G>T | ENSP00000405052.1:p.Ser641Ile | |
| ENST00000643230.2:c.2102G>T MANE Select | ENSP00000496491.1:p.Ser701Ile | |
| ENST00000643441.1:n.2087G>T | ||
| ENST00000307792.7:c.2102G>T | ENSP00000303212.3:p.Ser701Ile | |
| ENST00000427262.5:c.1922G>T | ENSP00000405052.1:p.Ser641Ile | |
| NM_001178129.1:c.1922G>T | NP_001171600.1:p.Ser641Ile | |
| NM_012431.2:c.2102G>T | NP_036563.1:p.Ser701Ile | |
| NM_012431.3:c.2102G>T MANE Select | NP_036563.1:p.Ser701Ile | |
| NM_001178129.2:c.1922G>T | NP_001171600.1:p.Ser641Ile |