Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40848266G>T , CM000681.2:g.40848266G>T | GRCh38 |
| NC_000019.9:g.41354171G>T , CM000681.1:g.41354171G>T | GRCh37 |
| NC_000019.8:g.46046011G>T | NCBI36 |
| NG_008377.1:g.7182C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000762.6:c.607C>A MANE Select | NP_000753.3:p.Arg203Ser |
| ENST00000301141.10:c.607C>A MANE Select | ENSP00000301141.4:p.Arg203Ser |
| NM_000762.5:c.607C>A | NP_000753.3:p.Arg203Ser |
| ENST00000301141.9:c.607C>A | ENSP00000301141.4:p.Arg203Ser |
| ENST00000596719.5:n.458C>A | |
| ENST00000600495.1:c.*419C>A | ENSP00000472905.1:n.*419C>A |
| ENST00000601627.1:c.120-43725G>T | |
| ENST00000610301.1:c.607C>A | ENSP00000477899.1:p.Arg203Ser |