Linked Data
dbSNP Id:
rs568382869
ExAC:
1:16375061 T / G
gnomAD v2:
1-16375061-T-G
gnomAD v4:
1-16048566-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16048566T>G , CM000663.2:g.16048566T>G | GRCh38 |
| NC_000001.10:g.16375061T>G , CM000663.1:g.16375061T>G | GRCh37 |
| NC_000001.9:g.16247648T>G | NCBI36 |
| NG_013079.1:g.9815T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.639T>G | ENSP00000507062.1:p.Phe213Leu | |
| ENST00000682793.1:c.639T>G | ENSP00000506910.1:p.Phe213Leu | |
| ENST00000682838.1:c.*297T>G | ENSP00000507652.1:n.*297T>G | |
| ENST00000683578.1:c.639T>G | ENSP00000507430.1:p.Phe213Leu | |
| ENST00000683661.1:n.2174T>G | ||
| ENST00000684324.1:c.639T>G | ENSP00000507937.1:p.Phe213Leu | |
| ENST00000684545.1:c.639T>G | ENSP00000506733.1:p.Phe213Leu | |
| ENST00000684714.1:c.639T>G | ENSP00000506861.1:p.Phe213Leu | |
| ENST00000684731.1:n.100T>G | ||
| ENST00000375679.9:c.639T>G MANE Select | ENSP00000364831.5:p.Phe213Leu | |
| ENST00000375679.8:c.639T>G | ENSP00000364831.4:p.Phe213Leu | |
| ENST00000619181.4:c.587+52T>G | ENSP00000483866.1:n.587+52T>G | |
| NM_000085.4:c.639T>G | NP_000076.2:p.Phe213Leu | |
| XM_011540619.1:c.480T>G | XP_011538921.1:p.Phe160Leu | |
| XM_011540620.1:c.639T>G | XP_011538922.1:p.Phe213Leu | |
| NM_000085.5:c.639T>G MANE Select | NP_000076.2:p.Phe213Leu |