Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40848266G>A , CM000681.2:g.40848266G>A | GRCh38 |
| NC_000019.9:g.41354171G>A , CM000681.1:g.41354171G>A | GRCh37 |
| NC_000019.8:g.46046011G>A | NCBI36 |
| NG_008377.1:g.7182C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000762.6:c.607C>T MANE Select | NP_000753.3:p.Arg203Cys |
| ENST00000301141.10:c.607C>T MANE Select | ENSP00000301141.4:p.Arg203Cys |
| NM_000762.5:c.607C>T | NP_000753.3:p.Arg203Cys |
| ENST00000301141.9:c.607C>T | ENSP00000301141.4:p.Arg203Cys |
| ENST00000596719.5:n.458C>T | |
| ENST00000600495.1:c.*419C>T | ENSP00000472905.1:n.*419C>T |
| ENST00000601627.1:c.120-43725G>A | |
| ENST00000610301.1:c.607C>T | ENSP00000477899.1:p.Arg203Cys |