Linked Data
dbSNP Id:
rs2124485763
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787158G>C , CM000686.2:g.2787158G>C | GRCh38 |
| NC_000024.9:g.2655199G>C , CM000686.1:g.2655199G>C | GRCh37 |
| NC_000024.8:g.2715199G>C | NCBI36 |
| NG_011751.1:g.5594C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12419G>C | ||
| ENST00000679825.1:n.270G>C | ||
| ENST00000680285.1:n.320-2591G>C | ||
| ENST00000680845.1:n.165+105G>C | ||
| ENST00000681787.1:n.106+12419G>C | ||
| ENST00000681940.1:n.106+12419G>C | ||
| ENST00000383070.2:c.446C>G MANE Select | ENSP00000372547.1:p.Pro149Arg | |
| ENST00000383070.1:c.446C>G | ENSP00000372547.1:p.Pro149Arg | |
| NM_003140.2:c.446C>G | NP_003131.1:p.Pro149Arg | |
| NM_003140.3:c.446C>G MANE Select | NP_003131.1:p.Pro149Arg |