Linked Data
ClinVar Variation Id:
48488
dbSNP Id:
rs111033481
ExAC:
1:216420190 C / T
gnomAD v2:
1-216420190-C-T
gnomAD v3:
1-216246848-C-T
gnomAD v4:
1-216246848-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216246848C>T , CM000663.2:g.216246848C>T | GRCh38 |
| NC_000001.10:g.216420190C>T , CM000663.1:g.216420190C>T | GRCh37 |
| NC_000001.9:g.214486813C>T | NCBI36 |
| NG_009497.1:g.181549G>A | |
| NG_009497.2:g.181601G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2546G>A MANE Select | ENSP00000305941.3:p.Cys849Tyr | |
| ENST00000674083.1:c.2546G>A | ENSP00000501296.1:p.Cys849Tyr | |
| ENST00000307340.7:c.2546G>A | ENSP00000305941.3:p.Cys849Tyr | |
| ENST00000366942.3:c.2546G>A | ENSP00000355909.3:p.Cys849Tyr | |
| NM_007123.5:c.2546G>A | NP_009054.5:p.Cys849Tyr | |
| NM_206933.2:c.2546G>A | NP_996816.2:p.Cys849Tyr | |
| NM_206933.3:c.2546G>A | NP_996816.2:p.Cys849Tyr | |
| NM_007123.6:c.2546G>A | NP_009054.6:p.Cys849Tyr | |
| NM_206933.4:c.2546G>A MANE Select | NP_996816.3:p.Cys849Tyr |