Linked Data
dbSNP Id:
rs2124486008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787264G>C , CM000686.2:g.2787264G>C | GRCh38 |
| NC_000024.9:g.2655305G>C , CM000686.1:g.2655305G>C | GRCh37 |
| NC_000024.8:g.2715305G>C | NCBI36 |
| NG_011751.1:g.5488C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12525G>C | ||
| ENST00000679825.1:n.376G>C | ||
| ENST00000680285.1:n.320-2485G>C | ||
| ENST00000680845.1:n.165+211G>C | ||
| ENST00000681787.1:n.106+12525G>C | ||
| ENST00000681940.1:n.106+12525G>C | ||
| ENST00000383070.2:c.340C>G MANE Select | ENSP00000372547.1:p.Gln114Glu | |
| ENST00000383070.1:c.340C>G | ENSP00000372547.1:p.Gln114Glu | |
| NM_003140.2:c.340C>G | NP_003131.1:p.Gln114Glu | |
| NM_003140.3:c.340C>G MANE Select | NP_003131.1:p.Gln114Glu |