Linked Data
ClinVar Variation Id:
421146
ClinVar RCV Id:
RCV000483064
dbSNP Id:
rs369384363
ExAC:
14:91804465 G / C
gnomAD v2:
14-91804465-G-C
gnomAD v3:
14-91338121-G-C
gnomAD v4:
14-91338121-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91338121G>C , CM000676.2:g.91338121G>C | GRCh38 |
| NC_000014.8:g.91804465G>C , CM000676.1:g.91804465G>C | GRCh37 |
| NC_000014.7:g.90874218G>C | NCBI36 |
| NG_033118.1:g.84724C>G | |
| NG_033118.2:g.84724C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.934C>G MANE Select | ENSP00000374507.6:p.Arg312Gly | |
| ENST00000389857.10:c.934C>G | ENSP00000374507.6:p.Arg312Gly | |
| ENST00000554051.1:n.411C>G | ||
| NM_001080414.3:c.934C>G | NP_001073883.2:p.Arg312Gly | |
| XM_005267691.3:c.934C>G | XP_005267748.1:p.Arg312Gly | |
| XM_011536796.1:c.826C>G | XP_011535098.1:p.Arg276Gly | |
| XR_429316.2:n.1062C>G | ||
| XR_943459.1:n.1062C>G | ||
| XM_005267691.5:c.934C>G | XP_005267748.1:p.Arg312Gly | |
| XM_011536796.2:c.826C>G | XP_011535098.1:p.Arg276Gly | |
| XM_017021335.2:c.934C>G | XP_016876824.1:p.Arg312Gly | |
| XM_017021337.2:c.934C>G | XP_016876826.1:p.Arg312Gly | |
| XR_429316.4:n.1060C>G | ||
| NM_001080414.4:c.934C>G MANE Select | NP_001073883.2:p.Arg312Gly |