Linked Data
dbSNP Id:
rs548810141
ExAC:
10:89487176 A / G
gnomAD v2:
10-89487176-A-G
gnomAD v3:
10-87727419-A-G
gnomAD v4:
10-87727419-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727419A>G , CM000672.2:g.87727419A>G | GRCh38 |
| NC_000010.10:g.89487176A>G , CM000672.1:g.89487176A>G | GRCh37 |
| NC_000010.9:g.89477156A>G | NCBI36 |
| NG_012150.1:g.72701A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1016A>G MANE Select | ENSP00000406157.1:p.Tyr339Cys | |
| ENST00000361175.8:c.1001A>G | ENSP00000354436.4:p.Tyr334Cys | |
| ENST00000456849.1:c.1016A>G | ENSP00000406157.1:p.Tyr339Cys | |
| NM_001015880.1:c.1016A>G | NP_001015880.1:p.Tyr339Cys | |
| NM_004670.3:c.1001A>G | NP_004661.2:p.Tyr334Cys | |
| NM_001015880.2:c.1016A>G MANE Select | NP_001015880.1:p.Tyr339Cys | |
| NM_004670.4:c.1001A>G | NP_004661.2:p.Tyr334Cys |