Linked Data
ClinVar Variation Id:
1685807
ClinVar RCV Id:
RCV002249974
dbSNP Id:
rs2041065908
gnomAD v4:
15-80153115-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80153115G>T , CM000677.2:g.80153115G>T | GRCh38 |
| NC_000015.9:g.80445457G>T , CM000677.1:g.80445457G>T | GRCh37 |
| NC_000015.8:g.78232512G>T | NCBI36 |
| NG_012833.1:g.5117G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.61G>T | ENSP00000507680.1:p.Val21Phe | |
| ENST00000682012.1:n.136G>T | ||
| ENST00000684363.1:c.61G>T | ENSP00000507314.1:p.Val21Phe | |
| ENST00000684569.1:n.106G>T | ||
| ENST00000561421.6:c.61G>T MANE Select | ENSP00000453347.2:p.Val21Phe | |
| ENST00000261755.9:c.61G>T | ENSP00000261755.5:p.Val21Phe | |
| ENST00000407106.5:c.61G>T | ENSP00000385080.1:p.Val21Phe | |
| ENST00000537726.5:n.143G>T | ||
| ENST00000558022.5:c.61G>T | ENSP00000453152.1:p.Val21Phe | |
| ENST00000558767.5:n.322G>T | ||
| ENST00000561369.1:n.141G>T | ||
| ENST00000561421.5:c.61G>T | ENSP00000453347.1:p.Val21Phe | |
| NM_000137.2:c.61G>T | NP_000128.1:p.Val21Phe | |
| XM_024449872.1:c.61G>T | XP_024305640.1:p.Val21Phe | |
| NM_000137.4:c.61G>T MANE Select | NP_000128.1:p.Val21Phe | |
| NM_001374377.1:c.61G>T | NP_001361306.1:p.Val21Phe | |
| NM_001374380.1:c.61G>T | NP_001361309.1:p.Val21Phe |