Linked Data
ClinVar Variation Id:
846455
dbSNP Id:
rs1060500018
gnomAD v2:
1-193172968-C-T
gnomAD v4:
1-193203838-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193203838C>T , CM000663.2:g.193203838C>T | GRCh38 |
| NC_000001.10:g.193172968C>T , CM000663.1:g.193172968C>T | GRCh37 |
| NC_000001.9:g.191439591C>T | NCBI36 |
| NG_012691.1:g.86881C>T , LRG_507:g.86881C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1016C>T MANE Select | ENSP00000356405.4:p.Pro339Leu | |
| ENST00000635846.1:c.773C>T | ENSP00000490035.1:p.Pro258Leu | |
| ENST00000643006.1:c.1084C>T | ENSP00000496633.1:p.Gln362Ter | |
| ENST00000648071.1:c.*992C>T | ENSP00000497513.1:n.*992C>T | |
| ENST00000649613.1:n.266C>T | ||
| ENST00000649895.1:n.1234C>T | ||
| ENST00000650197.1:c.1016C>T | ENSP00000496929.1:p.Pro339Leu | |
| ENST00000367435.3:c.1016C>T | ENSP00000356405.3:p.Pro339Leu | |
| NM_024529.4:c.1016C>T , LRG_507t1:c.1016C>T | NP_078805.3:p.Pro339Leu | |
| NM_024529.5:c.1016C>T MANE Select | NP_078805.3:p.Pro339Leu |