Linked Data
ClinVar Variation Id:
48258
dbSNP Id:
rs111033330
ExAC:
2:26684765 C / A
gnomAD v2:
2-26684765-C-A
gnomAD v3:
2-26461897-C-A
gnomAD v4:
2-26461897-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26461897C>A , CM000664.2:g.26461897C>A | GRCh38 |
| NC_000002.11:g.26684765C>A , CM000664.1:g.26684765C>A | GRCh37 |
| NC_000002.10:g.26538269C>A | NCBI36 |
| NG_009937.1:g.101802G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.5332G>T MANE Select | ENSP00000272371.2:p.Val1778Phe | |
| ENST00000339598.8:c.3031G>T MANE Plus Clinical | ENSP00000344521.3:p.Val1011Phe | |
| ENST00000402415.8:c.3091G>T | ENSP00000383906.4:p.Val1031Phe | |
| ENST00000272371.6:c.5332G>T | ENSP00000272371.2:p.Val1778Phe | |
| ENST00000338581.10:c.3031G>T | ENSP00000345137.6:p.Val1011Phe | |
| ENST00000339598.7:c.3031G>T | ENSP00000344521.3:p.Val1011Phe | |
| ENST00000402415.7:c.3262G>T | ENSP00000383906.3:p.Val1088Phe | |
| ENST00000403946.7:c.5332G>T | ENSP00000385255.3:p.Val1778Phe | |
| NM_001287489.1:c.5332G>T | NP_001274418.1:p.Val1778Phe | |
| NM_004802.3:c.3031G>T | NP_004793.2:p.Val1011Phe | |
| NM_194248.2:c.5332G>T | NP_919224.1:p.Val1778Phe | |
| NM_194322.2:c.3262G>T | NP_919303.1:p.Val1088Phe | |
| NM_194323.2:c.3031G>T | NP_919304.1:p.Val1011Phe | |
| XM_005264644.2:c.5317G>T | XP_005264701.1:p.Val1773Phe | |
| XM_011533185.1:c.5377G>T | XP_011531487.1:p.Val1793Phe | |
| XM_017005338.1:c.5272G>T | XP_016860827.1:p.Val1758Phe | |
| NM_001287489.2:c.5332G>T | NP_001274418.1:p.Val1778Phe | |
| NM_004802.4:c.3031G>T | NP_004793.2:p.Val1011Phe | |
| NM_194248.3:c.5332G>T MANE Select | NP_919224.1:p.Val1778Phe | |
| NM_194322.3:c.3262G>T | NP_919303.1:p.Val1088Phe | |
| NM_194323.3:c.3031G>T MANE Plus Clinical | NP_919304.1:p.Val1011Phe |