Linked Data
ClinVar Variation Id:
1074704
ClinVar RCV Id:
RCV001388108
dbSNP Id:
rs773231689
ExAC:
17:72916189 G / A
gnomAD v2:
17-72916189-G-A
gnomAD v3:
17-74920094-G-A
gnomAD v4:
17-74920094-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920094G>A , CM000679.2:g.74920094G>A | GRCh38 |
| NC_000017.10:g.72916189G>A , CM000679.1:g.72916189G>A | GRCh37 |
| NC_000017.9:g.70427784G>A | NCBI36 |
| NG_007882.1:g.8163C>T | |
| NG_033062.1:g.820G>A | |
| NG_007882.2:g.8170C>T | |
| NG_033062.2:g.820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.742C>T MANE Select | ENSP00000480279.1:p.Gln248Ter | |
| ENST00000579243.1:c.*341C>T | ENSP00000462568.1:n.*341C>T | |
| ENST00000614341.4:c.742C>T | ENSP00000480279.1:p.Gln248Ter | |
| NM_001282489.2:c.433C>T | NP_001269418.1:p.Gln145Ter | |
| NM_173477.4:c.742C>T | NP_775748.2:p.Gln248Ter | |
| XM_011524296.1:c.433C>T | XP_011522598.1:p.Gln145Ter | |
| XM_011524296.2:c.433C>T | XP_011522598.1:p.Gln145Ter | |
| NM_173477.5:c.742C>T MANE Select | NP_775748.2:p.Gln248Ter | |
| NM_001282489.3:c.433C>T | NP_001269418.1:p.Gln145Ter |