Linked Data
ClinVar Variation Id:
211033
dbSNP Id:
rs764054659
ExAC:
14:29236983 G / C
gnomAD v2:
14-29236983-G-C
gnomAD v4:
14-28767777-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767777G>C , CM000676.2:g.28767777G>C | GRCh38 |
| NC_000014.8:g.29236983G>C , CM000676.1:g.29236983G>C | GRCh37 |
| NC_000014.7:g.28306734G>C | NCBI36 |
| NG_009367.1:g.5697G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.498G>C | ENSP00000516406.1:p.Gly166= | |
| ENST00000313071.7:c.498G>C MANE Select | ENSP00000339004.3:p.Gly166= | |
| ENST00000313071.6:c.498G>C | ENSP00000339004.3:p.Gly166= | |
| NM_005249.4:c.498G>C | NP_005240.3:p.Gly166= | |
| NM_005249.5:c.498G>C MANE Select | NP_005240.3:p.Gly166= |