Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100666915T>C , CM000685.2:g.100666915T>C | GRCh38 |
| NC_000023.10:g.99921912T>C , CM000685.1:g.99921912T>C | GRCh37 |
| NC_000023.9:g.99808568T>C | NCBI36 |
| NG_021337.1:g.27750T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.943T>C MANE Select | ENSP00000362095.3:p.Ser315Pro | |
| ENST00000638920.1:n.946T>C | ||
| ENST00000677630.1:n.877T>C | ||
| ENST00000679590.1:n.976T>C | ||
| ENST00000373004.3:c.943T>C | ENSP00000362095.3:p.Ser315Pro | |
| NM_014467.2:c.943T>C | NP_055282.1:p.Ser315Pro | |
| XM_005262121.2:c.943T>C | XP_005262178.1:p.Ser315Pro | |
| NM_014467.3:c.943T>C MANE Select | NP_055282.1:p.Ser315Pro |