Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5967573G>A , CM000674.2:g.5967573G>A | GRCh38 |
| NC_000012.11:g.6076739G>A , CM000674.1:g.6076739G>A | GRCh37 |
| NC_000012.10:g.5947000G>A | NCBI36 |
| NG_009072.1:g.162098C>T | |
| NG_009072.2:g.162098C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.7800C>T MANE Select | NP_000543.3:p.Cys2600= |
| ENST00000261405.10:c.7800C>T MANE Select | ENSP00000261405.5:p.Cys2600= |
| NM_000552.3:c.7800C>T | NP_000543.2:p.Cys2600= |
| NM_000552.4:c.7800C>T | NP_000543.2:p.Cys2600= |
| ENST00000261405.9:c.7800C>T | ENSP00000261405.5:p.Cys2600= |
| ENST00000621700.1:n.118C>T |