Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485155T>C , CM000668.2:g.143485155T>C | GRCh38 |
| NC_000006.11:g.143806292T>C , CM000668.1:g.143806292T>C | GRCh37 |
| NC_000006.10:g.143847985T>C | NCBI36 |
| NG_008459.1:g.39375T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.945T>C MANE Select | ENSP00000356563.4:p.Leu315= | |
| ENST00000367591.4:c.945T>C | ENSP00000356563.4:p.Leu315= | |
| ENST00000585848.1:n.84T>C | ||
| NM_003630.2:c.945T>C | NP_003621.1:p.Leu315= | |
| NM_003630.3:c.945T>C MANE Select | NP_003621.1:p.Leu315= |