Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787157G>C , CM000686.2:g.2787157G>C | GRCh38 |
| NC_000024.9:g.2655198G>C , CM000686.1:g.2655198G>C | GRCh37 |
| NC_000024.8:g.2715198G>C | NCBI36 |
| NG_011751.1:g.5595C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12418G>C | ||
| ENST00000679825.1:n.269G>C | ||
| ENST00000680285.1:n.320-2592G>C | ||
| ENST00000680845.1:n.165+104G>C | ||
| ENST00000681787.1:n.106+12418G>C | ||
| ENST00000681940.1:n.106+12418G>C | ||
| ENST00000383070.2:c.447C>G MANE Select | ENSP00000372547.1:p.Pro149= | |
| ENST00000383070.1:c.447C>G | ENSP00000372547.1:p.Pro149= | |
| NM_003140.2:c.447C>G | NP_003131.1:p.Pro149= | |
| NM_003140.3:c.447C>G MANE Select | NP_003131.1:p.Pro149= |