Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485383G>C , CM000668.2:g.143485383G>C | GRCh38 |
| NC_000006.11:g.143806520G>C , CM000668.1:g.143806520G>C | GRCh37 |
| NC_000006.10:g.143848213G>C | NCBI36 |
| NG_008459.1:g.39603G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.1038+135G>C MANE Select | ENSP00000356563.4:n.1038+135G>C | |
| ENST00000367591.4:c.1038+135G>C | ENSP00000356563.4:n.1038+135G>C | |
| ENST00000585848.1:n.177+135G>C | ||
| NM_003630.2:c.1038+135G>C | NP_003621.1:n.1038+135G>C | |
| NM_003630.3:c.1038+135G>C MANE Select | NP_003621.1:n.1038+135G>C |