Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12283434A>C , CM000663.2:g.12283434A>C | GRCh38 |
| NC_000001.10:g.12343491A>C , CM000663.1:g.12343491A>C | GRCh37 |
| NC_000001.9:g.12266078A>C | NCBI36 |
| NG_056877.1:g.58396A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015378.4:c.5332A>C MANE Select | NP_056193.2:p.Ser1778Arg |
| ENST00000620676.6:c.5332A>C MANE Select | ENSP00000478104.1:p.Ser1778Arg |
| NM_015378.3:c.5332A>C | NP_056193.2:p.Ser1778Arg |
| NM_018156.3:c.5332A>C | NP_060626.2:p.Ser1778Arg |
| NM_018156.4:c.5332A>C | NP_060626.2:p.Ser1778Arg |
| ENST00000011700.10:c.1800A>C | |
| ENST00000613099.4:c.5332A>C | ENSP00000482233.1:p.Ser1778Arg |
| ENST00000620676.4:c.5332A>C | ENSP00000478104.1:p.Ser1778Arg |