Linked Data
ClinVar Variation Id:
311067
dbSNP Id:
rs150182714
ExAC:
13:110855918 C / G
gnomAD v2:
13-110855918-C-G
gnomAD v3:
13-110203571-C-G
gnomAD v4:
13-110203571-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110203571C>G , CM000675.2:g.110203571C>G | GRCh38 |
| NC_000013.10:g.110855918C>G , CM000675.1:g.110855918C>G | GRCh37 |
| NC_000013.9:g.109653919C>G | NCBI36 |
| NG_011544.2:g.108579G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.994G>C MANE Select | ENSP00000364979.4:p.Gly332Arg | |
| ENST00000543140.6:c.994G>C | ENSP00000443348.1:p.Gly332Arg | |
| ENST00000647797.1:c.873G>C | ||
| ENST00000649738.1:n.1124G>C | ||
| ENST00000375820.8:c.994G>C | ENSP00000364979.4:p.Gly332Arg | |
| ENST00000543140.5:c.994G>C | ENSP00000443348.1:p.Gly332Arg | |
| NM_001303110.1:c.994G>C | NP_001290039.1:p.Gly332Arg | |
| NM_001845.5:c.994G>C | NP_001836.3:p.Gly332Arg | |
| XM_011521048.1:c.802G>C | XP_011519350.1:p.Gly268Arg | |
| XM_011521048.2:c.802G>C | XP_011519350.1:p.Gly268Arg | |
| NM_001845.6:c.994G>C MANE Select | NP_001836.3:p.Gly332Arg | |
| NM_001303110.2:c.994G>C | NP_001290039.1:p.Gly332Arg |