Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787388G>C , CM000686.2:g.2787388G>C | GRCh38 |
| NC_000024.9:g.2655429G>C , CM000686.1:g.2655429G>C | GRCh37 |
| NC_000024.8:g.2715429G>C | NCBI36 |
| NG_011751.1:g.5364C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12649G>C | ||
| ENST00000679825.1:n.500G>C | ||
| ENST00000680285.1:n.320-2361G>C | ||
| ENST00000680845.1:n.166-92G>C | ||
| ENST00000681787.1:n.106+12649G>C | ||
| ENST00000681940.1:n.106+12649G>C | ||
| ENST00000383070.2:c.216C>G MANE Select | ENSP00000372547.1:p.Arg72= | |
| ENST00000383070.1:c.216C>G | ENSP00000372547.1:p.Arg72= | |
| NM_003140.2:c.216C>G | NP_003131.1:p.Arg72= | |
| NM_003140.3:c.216C>G MANE Select | NP_003131.1:p.Arg72= |