Linked Data
ClinVar Variation Id:
39261
dbSNP Id:
rs199476187
ExAC:
4:187115722 G / A
gnomAD v2:
4-187115722-G-A
gnomAD v3:
4-186194568-G-A
gnomAD v4:
4-186194568-G-A
PubMed:
PMID:22497028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194568G>A , CM000666.2:g.186194568G>A | GRCh38 |
| NC_000004.11:g.187115722G>A , CM000666.1:g.187115722G>A | GRCh37 |
| NC_000004.10:g.187352716G>A | NCBI36 |
| NG_007965.1:g.8049G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.283G>A MANE Select | ENSP00000368079.4:p.Gly95Arg | |
| ENST00000378802.4:c.283G>A | ENSP00000368079.4:p.Gly95Arg | |
| NM_207352.3:c.283G>A | NP_997235.3:p.Gly95Arg | |
| XM_005262935.2:c.283G>A | XP_005262992.1:p.Gly95Arg | |
| XM_006714184.2:c.-28G>A | XP_006714247.1:n.-28G>A | |
| XM_005262935.4:c.283G>A | XP_005262992.1:p.Gly95Arg | |
| XM_017008037.1:c.-28G>A | XP_016863526.1:n.-28G>A | |
| NM_207352.4:c.283G>A MANE Select | NP_997235.3:p.Gly95Arg |