Linked Data
ClinVar Variation Id:
856997
ClinVar RCV Id:
RCV001062586
dbSNP Id:
rs776540260
ExAC:
17:72916254 C / T
gnomAD v2:
17-72916254-C-T
gnomAD v3:
17-74920159-C-T
gnomAD v4:
17-74920159-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920159C>T , CM000679.2:g.74920159C>T | GRCh38 |
| NC_000017.10:g.72916254C>T , CM000679.1:g.72916254C>T | GRCh37 |
| NC_000017.9:g.70427849C>T | NCBI36 |
| NG_007882.1:g.8098G>A | |
| NG_033062.1:g.885C>T | |
| NG_007882.2:g.8105G>A | |
| NG_033062.2:g.885C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.677G>A MANE Select | ENSP00000480279.1:p.Gly226Asp | |
| ENST00000579243.1:c.*276G>A | ENSP00000462568.1:n.*276G>A | |
| ENST00000614341.4:c.677G>A | ENSP00000480279.1:p.Gly226Asp | |
| NM_001282489.2:c.368G>A | NP_001269418.1:p.Gly123Asp | |
| NM_173477.4:c.677G>A | NP_775748.2:p.Gly226Asp | |
| XM_011524296.1:c.368G>A | XP_011522598.1:p.Gly123Asp | |
| XM_011524296.2:c.368G>A | XP_011522598.1:p.Gly123Asp | |
| NM_173477.5:c.677G>A MANE Select | NP_775748.2:p.Gly226Asp | |
| NM_001282489.3:c.368G>A | NP_001269418.1:p.Gly123Asp |