Linked Data
ClinVar Variation Id:
1028024
ClinVar RCV Id:
RCV001328960
dbSNP Id:
rs776441221
ExAC:
5:52856565 C / T
gnomAD v2:
5-52856565-C-T
gnomAD v3:
5-53560735-C-T
gnomAD v4:
5-53560735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53560735C>T , CM000667.2:g.53560735C>T | GRCh38 |
| NC_000005.9:g.52856565C>T , CM000667.1:g.52856565C>T | GRCh37 |
| NC_000005.8:g.52892322C>T | NCBI36 |
| NG_008200.1:g.5101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.73C>T MANE Select | ENSP00000296684.5:p.Leu25Phe | |
| ENST00000296684.9:c.73C>T | ENSP00000296684.5:p.Leu25Phe | |
| ENST00000502423.5:c.73C>T | ENSP00000422177.1:p.Leu25Phe | |
| ENST00000506765.1:c.61C>T | ENSP00000424570.1:p.Leu21Phe | |
| ENST00000506974.5:c.73C>T | ENSP00000425967.1:p.Leu25Phe | |
| ENST00000507026.5:c.73C>T | ENSP00000424993.1:p.Leu25Phe | |
| NM_002495.2:c.73C>T | NP_002486.1:p.Leu25Phe | |
| XM_005248525.3:c.73C>T | XP_005248582.1:p.Leu25Phe | |
| XM_011543414.1:c.73C>T | XP_011541716.1:p.Leu25Phe | |
| NM_001318051.1:c.73C>T | NP_001304980.1:p.Leu25Phe | |
| NM_002495.3:c.73C>T | NP_002486.1:p.Leu25Phe | |
| NR_134473.1:n.103C>T | ||
| NR_134474.1:n.103C>T | ||
| NR_134475.1:n.103C>T | ||
| XM_017009491.1:c.73C>T | XP_016864980.1:p.Leu25Phe | |
| NM_002495.4:c.73C>T MANE Select | NP_002486.1:p.Leu25Phe | |
| NM_001318051.2:c.73C>T | NP_001304980.1:p.Leu25Phe | |
| NR_134473.2:n.97C>T | ||
| NR_134474.2:n.97C>T | ||
| NR_134475.2:n.97C>T |