Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45677891C>T , CM000669.2:g.45677891C>T | GRCh38 |
| NC_000007.13:g.45717490C>T , CM000669.1:g.45717490C>T | GRCh37 |
| NC_000007.12:g.45684015C>T | NCBI36 |
| NG_034198.1:g.108752C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297323.12:c.1628C>T MANE Select | ENSP00000297323.7:p.Ser543Leu | |
| ENST00000646653.1:n.569C>T | ||
| ENST00000297323.11:c.1628C>T | ENSP00000297323.7:p.Ser543Leu | |
| NM_021116.2:c.1628C>T | NP_066939.1:p.Ser543Leu | |
| XM_005249584.2:c.1628C>T | XP_005249641.1:p.Ser543Leu | |
| NM_021116.3:c.1628C>T | NP_066939.1:p.Ser543Leu | |
| XM_005249584.3:c.1628C>T | XP_005249641.1:p.Ser543Leu | |
| NM_021116.4:c.1628C>T MANE Select | NP_066939.1:p.Ser543Leu |