Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6528679T>C , CM000674.2:g.6528679T>C | GRCh38 |
| NC_000012.11:g.6637845T>C , CM000674.1:g.6637845T>C | GRCh37 |
| NC_000012.10:g.6508106T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014865.4:c.3300T>C MANE Select | NP_055680.3:p.Arg1100= |
| ENST00000315579.10:c.3300T>C MANE Select | ENSP00000325017.5:p.Arg1100= |
| NM_014865.3:c.3300T>C | NP_055680.3:p.Arg1100= |
| ENST00000315579.9:c.3300T>C | ENSP00000325017.5:p.Arg1100= |
| ENST00000535804.1:n.133T>C | |
| ENST00000539084.5:c.*2995T>C | ENSP00000438495.1:n.*2995T>C |