Linked Data
ClinVar Variation Id:
2192865
ClinVar RCV Id:
RCV002607694
dbSNP Id:
rs150000497
ExAC:
17:72915956 C / T
gnomAD v2:
17-72915956-C-T
gnomAD v3:
17-74919861-C-T
gnomAD v4:
17-74919861-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919861C>T , CM000679.2:g.74919861C>T | GRCh38 |
| NC_000017.10:g.72915956C>T , CM000679.1:g.72915956C>T | GRCh37 |
| NC_000017.9:g.70427551C>T | NCBI36 |
| NG_007882.1:g.8396G>A | |
| NG_033062.1:g.587C>T | |
| NG_007882.2:g.8403G>A | |
| NG_033062.2:g.587C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.975G>A MANE Select | ENSP00000480279.1:p.Gly325= | |
| ENST00000579243.1:c.*574G>A | ENSP00000462568.1:n.*574G>A | |
| ENST00000614341.4:c.975G>A | ENSP00000480279.1:p.Gly325= | |
| NM_001282489.2:c.666G>A | NP_001269418.1:p.Gly222= | |
| NM_173477.4:c.975G>A | NP_775748.2:p.Gly325= | |
| XM_011524296.1:c.666G>A | XP_011522598.1:p.Gly222= | |
| XM_011524296.2:c.666G>A | XP_011522598.1:p.Gly222= | |
| NM_173477.5:c.975G>A MANE Select | NP_775748.2:p.Gly325= | |
| NM_001282489.3:c.666G>A | NP_001269418.1:p.Gly222= |