Linked Data
ClinVar Variation Id:
2882980
ClinVar RCV Id:
RCV003763559
dbSNP Id:
rs756706023
ExAC:
5:147781658 T / C
gnomAD v2:
5-147781658-T-C
gnomAD v3:
5-148402095-T-C
gnomAD v4:
5-148402095-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148402095T>C , CM000667.2:g.148402095T>C | GRCh38 |
| NC_000005.9:g.147781658T>C , CM000667.1:g.147781658T>C | GRCh37 |
| NC_000005.8:g.147761851T>C | NCBI36 |
| NG_033871.1:g.23161T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340253.10:c.376T>C MANE Select | ENSP00000342023.6:p.Phe126Leu | |
| ENST00000296701.10:c.376T>C | ENSP00000296701.6:p.Phe126Leu | |
| ENST00000340253.9:c.376T>C | ENSP00000342023.5:p.Phe126Leu | |
| ENST00000394370.7:c.376T>C | ENSP00000377895.3:p.Phe126Leu | |
| ENST00000502629.1:n.250T>C | ||
| ENST00000503613.5:n.585T>C | ||
| ENST00000508326.5:n.477T>C | ||
| ENST00000509699.6:n.441T>C | ||
| ENST00000511080.5:n.221+7191T>C | ||
| ENST00000513826.1:c.376T>C | ENSP00000426410.1:p.Phe126Leu | |
| ENST00000521160.5:n.425T>C | ||
| NM_001271723.1:c.376T>C | NP_001258652.1:p.Phe126Leu | |
| NM_030793.4:c.376T>C | NP_110420.3:p.Phe126Leu | |
| XM_005268513.1:c.376T>C | XP_005268570.1:p.Phe126Leu | |
| XM_006714797.1:c.376T>C | XP_006714860.1:p.Phe126Leu | |
| NM_205836.2:c.376T>C | NP_995308.1:p.Phe126Leu | |
| XM_006714797.2:c.376T>C | XP_006714860.1:p.Phe126Leu | |
| XM_011537684.3:c.-972T>C | XP_011535986.1:n.-972T>C | |
| XM_017009899.1:c.-882T>C | XP_016865388.1:n.-882T>C | |
| XM_017009900.2:c.-1131T>C | XP_016865389.1:n.-1131T>C | |
| XM_017009901.2:c.-882T>C | XP_016865390.1:n.-882T>C | |
| XM_017009902.2:c.-972T>C | XP_016865391.1:n.-972T>C | |
| XM_024446223.1:c.376T>C | XP_024301991.1:p.Phe126Leu | |
| XR_001742284.1:n.522T>C | ||
| NM_030793.5:c.376T>C | NP_110420.3:p.Phe126Leu | |
| NM_205836.3:c.376T>C MANE Select | NP_995308.1:p.Phe126Leu | |
| NM_001271723.2:c.376T>C | NP_001258652.1:p.Phe126Leu |