Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648103C>T , CM000673.2:g.69648103C>T | GRCh38 |
| NC_000011.9:g.69462871C>T , CM000673.1:g.69462871C>T | GRCh37 |
| NC_000011.8:g.69172052C>T | NCBI36 |
| NG_007375.1:g.11999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.684C>T MANE Select | ENSP00000227507.2:p.Arg228= | |
| ENST00000227507.2:c.684C>T | ENSP00000227507.2:p.Arg228= | |
| ENST00000536559.1:c.*104C>T | ENSP00000438482.1:n.*104C>T | |
| ENST00000542367.1:n.147C>T | ||
| ENST00000545484.1:n.390C>T | ||
| NM_053056.2:c.684C>T | NP_444284.1:p.Arg228= | |
| XM_006718653.2:c.708C>T | XP_006718716.1:p.Arg236= | |
| NM_053056.3:c.684C>T MANE Select | NP_444284.1:p.Arg228= |