Linked Data
dbSNP Id:
rs1440630344
gnomAD v2:
20-10639193-A-T
gnomAD v3:
20-10658545-A-T
gnomAD v4:
20-10658545-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658545A>T , CM000682.2:g.10658545A>T | GRCh38 |
| NC_000020.10:g.10639193A>T , CM000682.1:g.10639193A>T | GRCh37 |
| NC_000020.9:g.10587193A>T | NCBI36 |
| NG_007496.1:g.20502T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.617T>A MANE Select | ENSP00000254958.4:p.Phe206Tyr | |
| ENST00000254958.9:c.617T>A | ENSP00000254958.4:p.Phe206Tyr | |
| ENST00000423891.6:n.483T>A | ||
| NM_000214.2:c.617T>A | NP_000205.1:p.Phe206Tyr | |
| NM_000214.3:c.617T>A MANE Select | NP_000205.1:p.Phe206Tyr |