Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100666890T>C , CM000685.2:g.100666890T>C | GRCh38 |
| NC_000023.10:g.99921887T>C , CM000685.1:g.99921887T>C | GRCh37 |
| NC_000023.9:g.99808543T>C | NCBI36 |
| NG_021337.1:g.27725T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.918T>C MANE Select | ENSP00000362095.3:p.Cys306= | |
| ENST00000638920.1:n.921T>C | ||
| ENST00000677630.1:n.852T>C | ||
| ENST00000679590.1:n.951T>C | ||
| ENST00000373004.3:c.918T>C | ENSP00000362095.3:p.Cys306= | |
| NM_014467.2:c.918T>C | NP_055282.1:p.Cys306= | |
| XM_005262121.2:c.918T>C | XP_005262178.1:p.Cys306= | |
| NM_014467.3:c.918T>C MANE Select | NP_055282.1:p.Cys306= |