Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.633767G>A , CM000678.2:g.633767G>A | GRCh38 |
| NC_000016.9:g.683767G>A , CM000678.1:g.683767G>A | GRCh37 |
| NC_000016.8:g.623768G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053284.3:c.1357G>A MANE Select | NP_444514.1:p.Gly453Ser |
| ENST00000319070.3:c.1357G>A MANE Select | ENSP00000324763.2:p.Gly453Ser |
| NM_053284.2:c.1357G>A | NP_444514.1:p.Gly453Ser |
| ENST00000319070.2:c.1357G>A | ENSP00000324763.2:p.Gly453Ser |
| ENST00000573440.1:n.4529G>A |