Linked Data
dbSNP Id:
rs757510219
ExAC:
12:96374638 C / A
gnomAD v2:
12-96374638-C-A
gnomAD v4:
12-95980860-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95980860C>A , CM000674.2:g.95980860C>A | GRCh38 |
| NC_000012.11:g.96374638C>A , CM000674.1:g.96374638C>A | GRCh37 |
| NC_000012.10:g.94898769C>A | NCBI36 |
| NG_008180.1:g.20434G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261208.8:c.1291G>T MANE Select | ENSP00000261208.3:p.Val431Phe | |
| ENST00000261208.7:c.1291G>T | ENSP00000261208.3:p.Val431Phe | |
| ENST00000538703.5:c.1291G>T | ENSP00000440861.1:p.Val431Phe | |
| ENST00000541929.5:c.667G>T | ENSP00000446364.1:p.Val223Phe | |
| ENST00000544080.6:c.*720G>T | ENSP00000439385.2:n.*720G>T | |
| ENST00000546999.5:c.*720G>T | ENSP00000447675.1:n.*720G>T | |
| NM_001258333.1:c.667G>T | NP_001245262.1:p.Val223Phe | |
| NM_001258334.1:c.1291G>T | NP_001245263.1:p.Val431Phe | |
| NM_002108.3:c.1291G>T | NP_002099.1:p.Val431Phe | |
| XM_011538249.1:c.439G>T | XP_011536551.1:p.Val147Phe | |
| XM_011538249.2:c.439G>T | XP_011536551.1:p.Val147Phe | |
| XM_017019246.1:c.361G>T | XP_016874735.1:p.Val121Phe | |
| NM_002108.4:c.1291G>T MANE Select | NP_002099.1:p.Val431Phe | |
| NM_001258334.2:c.1291G>T | NP_001245263.1:p.Val431Phe | |
| NM_001258333.2:c.667G>T | NP_001245262.1:p.Val223Phe |