Linked Data
ClinVar Variation Id:
2055479
ClinVar RCV Id:
RCV002933352
dbSNP Id:
rs773153080
ExAC:
17:10543085 C / T
gnomAD v2:
17-10543085-C-T
gnomAD v3:
17-10639768-C-T
gnomAD v4:
17-10639768-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10639768C>T , CM000679.2:g.10639768C>T | GRCh38 |
| NC_000017.10:g.10543085C>T , CM000679.1:g.10543085C>T | GRCh37 |
| NC_000017.9:g.10483810C>T | NCBI36 |
| NG_011537.1:g.22531G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583535.6:c.2717G>A MANE Select | ENSP00000464317.1:p.Cys906Tyr | |
| ENST00000583535.5:c.2717G>A | ENSP00000464317.1:p.Cys906Tyr | |
| NM_002470.3:c.2717G>A | NP_002461.2:p.Cys906Tyr | |
| XM_011523870.1:c.2717G>A | XP_011522172.1:p.Cys906Tyr | |
| XM_011523871.1:c.2717G>A | XP_011522173.1:p.Cys906Tyr | |
| XM_011523872.1:c.2717G>A | XP_011522174.1:p.Cys906Tyr | |
| XM_011523870.3:c.2717G>A | XP_011522172.1:p.Cys906Tyr | |
| XM_011523871.2:c.2717G>A | XP_011522173.1:p.Cys906Tyr | |
| NM_002470.4:c.2717G>A MANE Select | NP_002461.2:p.Cys906Tyr |