Linked Data
ClinVar Variation Id:
393372
dbSNP Id:
rs377354387
ExAC:
2:73677817 C / T
gnomAD v2:
2-73677817-C-T
gnomAD v3:
2-73450690-C-T
gnomAD v4:
2-73450690-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73450690C>T , CM000664.2:g.73450690C>T | GRCh38 |
| NC_000002.11:g.73677817C>T , CM000664.1:g.73677817C>T | GRCh37 |
| NC_000002.10:g.73531325C>T | NCBI36 |
| NG_011690.1:g.69938C>T , LRG_741:g.69938C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.3782C>T | ENSP00000507671.1:p.Pro1261Leu | |
| ENST00000682801.1:c.3782C>T | ENSP00000507862.1:p.Pro1261Leu | |
| ENST00000682859.1:c.3782C>T | ENSP00000508222.1:p.Pro1261Leu | |
| ENST00000683791.1:c.685+18399C>T | ||
| ENST00000684460.1:c.1234C>T | ||
| ENST00000684548.1:c.3782C>T | ENSP00000507421.1:p.Pro1261Leu | |
| ENST00000684656.1:c.1234C>T | ||
| ENST00000613296.6:c.4163C>T MANE Select | ENSP00000482968.1:p.Pro1388Leu | |
| ENST00000484298.5:c.4037C>T | ENSP00000478155.1:p.Pro1346Leu | |
| ENST00000613296.4:c.4163C>T | ENSP00000482968.1:p.Pro1388Leu | |
| ENST00000614410.4:c.4163C>T | ENSP00000479094.1:p.Pro1388Leu | |
| NM_015120.4:c.4166C>T , LRG_741t1:c.4166C>T | NP_055935.4:p.Pro1389Leu | |
| NM_001378454.1:c.4163C>T MANE Select | NP_001365383.1:p.Pro1388Leu |