Linked Data
ClinVar Variation Id:
2903
dbSNP Id:
rs80277041
gnomAD v4:
17-44379689-C-G
ERepo:
CA115852/MONDO:0010119/011
PubMed:
PMID:20020534
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44379689C>G , CM000679.2:g.44379689C>G | GRCh38 |
| NC_000017.10:g.42457057C>G , CM000679.1:g.42457057C>G | GRCh37 |
| NC_000017.9:g.39812583C>G | NCBI36 |
| NG_008331.1:g.14817G>C , LRG_479:g.14817G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.1878G>C MANE Select | ENSP00000262407.5:p.Gln626His | |
| ENST00000648408.1:c.1309G>C | ||
| ENST00000262407.5:c.1878G>C | ENSP00000262407.5:p.Gln626His | |
| ENST00000592462.5:n.673G>C | ||
| NM_000419.3:c.1878G>C , LRG_479t1:c.1878G>C | NP_000410.2:p.Gln626His | |
| XM_011524749.1:c.1878G>C | XP_011523051.1:p.Gln626His | |
| XM_011524750.1:c.1878G>C | XP_011523052.1:p.Gln626His | |
| NM_000419.4:c.1878G>C | NP_000410.2:p.Gln626His | |
| NM_000419.5:c.1878G>C MANE Select | NP_000410.2:p.Gln626His |