Linked Data
ClinVar Variation Id:
518007
ClinVar RCV Id:
RCV000604547
dbSNP Id:
rs773250434
ExAC:
16:69370480 A / G
gnomAD v2:
16-69370480-A-G
gnomAD v4:
16-69336577-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69336577A>G , CM000678.2:g.69336577A>G | GRCh38 |
| NC_000016.9:g.69370480A>G , CM000678.1:g.69370480A>G | GRCh37 |
| NC_000016.8:g.67927981A>G | NCBI36 |
| NG_009013.1:g.8047T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306875.10:c.513T>C MANE Select | ENSP00000305459.6:p.Tyr171= | |
| ENST00000306875.8:c.513T>C | ENSP00000305459.4:p.Tyr171= | |
| ENST00000562081.2:c.513T>C | ENSP00000455954.1:p.Tyr171= | |
| ENST00000562595.5:c.454T>C | ||
| ENST00000563634.1:c.138T>C | ENSP00000454500.1:p.Tyr46= | |
| ENST00000564737.1:c.602T>C | ||
| ENST00000567493.1:c.93T>C | ENSP00000464395.1:p.Tyr31= | |
| ENST00000570293.5:c.452T>C | ENSP00000464417.1:n.452T>C | |
| NM_032382.4:c.513T>C | NP_115758.3:p.Tyr171= | |
| NM_001374871.1:c.513T>C | NP_001361800.1:p.Tyr171= | |
| NM_032382.5:c.513T>C MANE Select | NP_115758.3:p.Tyr171= | |
| NM_001379261.1:c.513T>C | NP_001366190.1:p.Tyr171= | |
| NM_001379262.1:c.513T>C | NP_001366191.1:p.Tyr171= | |
| NM_001379263.1:c.513T>C | NP_001366192.1:p.Tyr171= | |
| NM_001379264.1:c.513T>C | NP_001366193.1:p.Tyr171= | |
| NM_001379265.1:c.513T>C | NP_001366194.1:p.Tyr171= | |
| NM_001379266.1:c.513T>C | NP_001366195.1:p.Tyr171= |